A52V (p.Ala52Val) variant of CLDN10 (Claudin-10)
A52V (p.Ala52Val) in CLDN10 (Claudin-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- gnomAD rs1191682747
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.23
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available