A2T (p.Ala2Thr) variant of CLDN14 (Claudin-14)
A2T (p.Ala2Thr) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 21-36461692-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.60
- CADD 23.30
- PolyPhen-2 0.73
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available