Галерея 658808
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Галерея 658808
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1 Department of Economics and Business, Universidad de Almería, Almería, Spain.
2 Department of Behavioral Science, Center for Experimental Research in Social Sciences, Hokkaido University, Sapporo, Japan.
María José Muñoz Torrecillas et al.
Front Public Health .
2021 .
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1 Department of Economics and Business, Universidad de Almería, Almería, Spain.
2 Department of Behavioral Science, Center for Experimental Research in Social Sciences, Hokkaido University, Sapporo, Japan.
Comment on
Editorial on the Research Topic Discounting Models in Behavioral Health Economics and Quantitative Health Psychology
Grüne-Yanoff T.
Grüne-Yanoff T.
Sci Context. 2015 Dec;28(4):675-713. doi: 10.1017/S0269889715000307.
Sci Context. 2015.
PMID: 26554646
Bickel WK, MacKillop J, Madden GJ, Odum AL, Yi R.
Bickel WK, et al.
J Exp Anal Behav. 2015 Jan;103(1):1-9. doi: 10.1002/jeab.133.
J Exp Anal Behav. 2015.
PMID: 25641079
Free PMC article.
No abstract available.
MacKillop J, Celio MA, Mastroleo NR, Kahler CW, Operario D, Colby SM, Barnett NP, Monti PM.
MacKillop J, et al.
AIDS Behav. 2015 Mar;19(3):450-8. doi: 10.1007/s10461-014-0909-6.
AIDS Behav. 2015.
PMID: 25267115
Free PMC article.
Cassidy RN, Aston ER, Tidey JW, Colby SM.
Cassidy RN, et al.
Addict Behav. 2020 Apr;103:106225. doi: 10.1016/j.addbeh.2019.106225. Epub 2019 Nov 30.
Addict Behav. 2020.
PMID: 31838441
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Strickland JC, Lile JA, Stoops WW.
Strickland JC, et al.
Behav Processes. 2017 Jul;140:33-40. doi: 10.1016/j.beproc.2017.03.017. Epub 2017 Mar 24.
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Keywords:
behavioral economics; discounting models; health economics; health psychology; public health.
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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Familial hemophagocytic lymphohistiocytosis 2
Familial hemophagocytic lymphohistiocytosis 2
Submitted interpretations and evidence
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Allele origin:
germline
Accession: SCV001468466.1
First in ClinVar: Jan 09, 2021
Last updated: Jan 09, 2021
PRF1 NM_001083116.2 exon 2 p.Pro22Leu (c.65C>T): This variant has not been reported in the literature but is present in 0.01% (13/122152) of European alleles in … (more)
PRF1 NM_001083116.2 exon 2 p.Pro22Leu (c.65C>T): This variant has not been reported in the literature but is present in 0.01% (13/122152) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/10-72360594-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:658808). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. (less)
Allele origin:
germline
Accession: SCV000956162.5
First in ClinVar: Aug 14, 2019
Last updated: Feb 07, 2023
This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 22 of the PRF1 protein (p.Pro22Leu). … (more)
This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 22 of the PRF1 protein (p.Pro22Leu). This variant is present in population databases (rs528937278, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PRF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 658808). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRF1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
PRF1 NM_001083116.2 exon 2 p.Pro22Leu (c.65C>T): This variant has not been reported in the literature but is present in 0.01% (13/122152) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/10-72360594-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:658808). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 22 of the PRF1 protein (p.Pro22Leu). This variant is present in population databases (rs528937278, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PRF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 658808). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRF1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Functional evidence
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PRF1 NM_001083116.2 exon 2 p.Pro22Leu (c.65C>T): This variant has not been reported in the literature but is present in 0.01% (13/122152) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/10-72360594-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:658808). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 22 of the PRF1 protein (p.Pro22Leu). This variant is present in population databases (rs528937278, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PRF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 658808). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRF1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Text-mined citations for
rs528937278 1
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