G63C (p.Gly63Cys) variant of CLCN1 (Chloride channel protein 1)
G63C (p.Gly63Cys) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G63C (p.Gly63Cys) variant details
- p.Gly63Cys
- ExAC rs781383745
- gnomAD rs781383745
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.69
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available