G41V (p.Gly41Val) variant of CLCN1 (Chloride channel protein 1)
G41V (p.Gly41Val) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G41V (p.Gly41Val) variant details
- p.Gly41Val
- gnomAD rs1165421867
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.13
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available