A18S (p.Ala18Ser) variant of EPCAM (P16422)
A18S (p.Ala18Ser) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 2-47369557-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.17
- CADD 8.70
- PolyPhen-2 0.17
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available