A18V (p.Ala18Val) variant of EPCAM (P16422)
A18V (p.Ala18Val) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- Ensembl rs2103738187
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.12
- MetaLR 0.27
- MetaSVM -0.89
- CADD 8.67
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available