A15S (p.Ala15Ser) variant of EPCAM (P16422)
A15S (p.Ala15Ser) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- TOPMed rs961670779
- gnomAD rs961670779
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.18
- MetaLR 0.25
- MetaSVM -0.86
- CADD 14.30
- PolyPhen-2 0.28
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available