G11V (p.Gly11Val) variant of CLCN1 (Chloride channel protein 1)
G11V (p.Gly11Val) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- NCI-TCGA Cosmic COSV5837
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.16
- CADD 10.20
- PolyPhen-2 0.05
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available