R8C (p.Arg8Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
R8C (p.Arg8Cys) in CLCNKB (Chloride channel protein ClC-Kb) 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 0.60 / 1. The record also includes population frequency data and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- rs985164800
- TOPMed rs985164800
- gnomAD rs985164800
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.60
- CADD 24.90
- PolyPhen-2 0.67
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available