R45G (p.Arg45Gly) variant of CLCNKB (Chloride channel protein ClC-Kb)
R45G (p.Arg45Gly) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R45G (p.Arg45Gly) variant details
- p.Arg45Gly
- ESP rs367552783
- ExAC rs367552783
- TOPMed rs367552783
- gnomAD rs367552783
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.61
- CADD 22.20
- PolyPhen-2 0.81
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available