A23V (p.Ala23Val) variant of EPCAM (P16422)
A23V (p.Ala23Val) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD rs1671161806
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.34
- MetaLR 0.61
- MetaSVM -0.18
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available