V6F (p.Val6Phe) variant of EPCAM (P16422)
V6F (p.Val6Phe) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V6F (p.Val6Phe) variant details
- p.Val6Phe
- gnomAD 2-47369521-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.29
- CADD 13.50
- PolyPhen-2 0.10
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available