A2V (p.Ala2Val) variant of CLDN14 (Claudin-14)
A2V (p.Ala2Val) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 21-36461691-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.51
- CADD 19.50
- PolyPhen-2 0.40
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available