A21S (p.Ala21Ser) variant of EPCAM (P16422)
A21S (p.Ala21Ser) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- TOPMed rs1671161562
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.18
- MetaLR 0.37
- MetaSVM -0.81
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available