A2S (p.Ala2Ser) variant of CLDN14 (Claudin-14)
A2S (p.Ala2Ser) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 21-36461692-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.47
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available