A16V (p.Ala16Val) variant of EPCAM (P16422)
A16V (p.Ala16Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- TOPMed rs1228140225
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -1.01
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available