A23D (p.Ala23Asp) variant of EPCAM (P16422)
A23D (p.Ala23Asp) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- gnomAD rs1671161806
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.43
- MetaLR 0.61
- MetaSVM 0.12
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available