A15E (p.Ala15Glu) variant of EPCAM (P16422)
A15E (p.Ala15Glu) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- gnomAD 2-47369549-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.37
- CADD 14.40
- PolyPhen-2 0.56
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available