A16E (p.Ala16Glu) variant of EPCAM (P16422)
A16E (p.Ala16Glu) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 2-47369552-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.41
- CADD 11.80
- PolyPhen-2 0.38
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available