A5S (p.Ala5Ser) variant of CLDN14 (Claudin-14)
A5S (p.Ala5Ser) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 21-36461683-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.65
- CADD 22.90
- PolyPhen-2 0.80
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available