V54F (p.Val54Phe) variant of CLDN10 (Claudin-10)
V54F (p.Val54Phe) in CLDN10 (Claudin-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V54F (p.Val54Phe) variant details
- p.Val54Phe
- gnomAD 13-95552913-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.85
- MetaLR 0.75
- MetaSVM 0.70
- CADD 26.30
- PolyPhen-2 0.39
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available