A2S (p.Ala2Ser) variant of EPCAM (P16422)
A2S (p.Ala2Ser) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 2-47369509-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.24
- CADD 20.70
- PolyPhen-2 0.31
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available