A5T (p.Ala5Thr) variant of CLDN14 (Claudin-14)
A5T (p.Ala5Thr) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 21-36461683-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.78
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available