R29C (p.Arg29Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
R29C (p.Arg29Cys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs140923370
- cosmic curated COSV65160
- ESP rs140923370
- ExAC rs140923370
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.61
- CADD 23.20
- PolyPhen-2 0.57
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available