A8S (p.Ala8Ser) variant of EPCAM (P16422)
A8S (p.Ala8Ser) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 2-47369527-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.23
- CADD 16.70
- PolyPhen-2 0.23
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available