A23G (p.Ala23Gly) variant of EPCAM (P16422)
A23G (p.Ala23Gly) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- gnomAD rs1671161806
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.32
- MetaLR 0.61
- MetaSVM -0.16
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.14
- Population evidence available
- Structural context available