G51V (p.Gly51Val) variant of CLCN1 (Chloride channel protein 1)
G51V (p.Gly51Val) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- gnomAD 7-143316364-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.19
- CADD 14.10
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available