M Cap Porn
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M Cap Porn
3/25/2019: M-CAP score file with an interpretable sensitivity score can be found here ! Sensitivity score ≤ 0.95 is possibly pathogenic.
M-CAP scores not available for some alleles at :.
M-CAP scores only rare (≤ 1% allele frequency), missense variants based
on the Ensembl build 75 gene set .
M-CAP scores only rare (≤ 1% allele frequency), missense variants based
on the Ensembl build 75 gene set .
M-CAP only scores rare missense variants: hg19, ENSEMBL 75 missense, ExAC v0.3 where no super population has minor allele frequency above 1%. If a missense variant has no M-CAP score, the M-CAP prediction should be assumed to be likely benign.
Enter the GRCh37/hg19 coordinate for a missense variant to retrieve its M-CAP score.
Jagadeesh, K., Wenger, A., Berger, M., Guturu, H., Stenson, P., Cooper, D., Bernstein, J., and Bejerano, G. (2016). M-CAP eliminates a majority of variants with uncertain significance in clinical exomes at high sensitivity. Nature Genetics, 2016. 48 (12) 1581 DOI: 10.1038/ng.3703
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