G17V (p.Gly17Val) variant of CLCN1 (Chloride channel protein 1)
G17V (p.Gly17Val) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- TOPMed rs1196345944
- gnomAD rs1196345944
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.65
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available