A8V (p.Ala8Val) variant of EPCAM (P16422)
A8V (p.Ala8Val) in EPCAM (P16422) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- TOPMed rs1274512381
- gnomAD rs1274512381
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.64
- CADD 16.30
- PolyPhen-2 0.39
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available