G11S (p.Gly11Ser) variant of CLCN1 (Chloride channel protein 1)
G11S (p.Gly11Ser) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- gnomAD rs1210604442
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.15
- CADD 1.03
- PolyPhen-2 0.01
- SIFT 0.92
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available