P3H (p.Pro3His) variant of EPCAM (P16422)
P3H (p.Pro3His) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P3H (p.Pro3His) variant details
- p.Pro3His
- gnomAD 2-47369513-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.22
- CADD 21.00
- PolyPhen-2 0.52
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available