A14P (p.Ala14Pro) variant of EPCAM (P16422)
A14P (p.Ala14Pro) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- TOPMed rs1671160790
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.42
- MetaLR 0.48
- MetaSVM -0.46
- CADD 18.40
- PolyPhen-2 0.69
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available