G41S (p.Gly41Ser) variant of CLCN1 (Chloride channel protein 1)
G41S (p.Gly41Ser) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- gnomAD rs1471953068
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.14
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available