A5V (p.Ala5Val) variant of CLDN14 (Claudin-14)
A5V (p.Ala5Val) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD 21-36461682-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.74
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available