G10V (p.Gly10Val) variant of CLCN1 (Chloride channel protein 1)
G10V (p.Gly10Val) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- gnomAD 7-143316241-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.32
- CADD 18.10
- PolyPhen-2 0.11
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available