A50V (p.Ala50Val) variant of CLCN1 (Chloride channel protein 1)
A50V (p.Ala50Val) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- gnomAD 7-143316361-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.12
- CADD 8.10
- PolyPhen-2 0.02
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available