A22E (p.Ala22Glu) variant of EPCAM (P16422)
A22E (p.Ala22Glu) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- gnomAD 2-47369570-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.20
- CADD 19.10
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available