A21D (p.Ala21Asp) variant of EPCAM (P16422)
A21D (p.Ala21Asp) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- gnomAD 2-47369567-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.32
- CADD 19.50
- PolyPhen-2 0.16
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available