R45C (p.Arg45Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
R45C (p.Arg45Cys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bartter disease type 3; Bartter disease type 4B; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- rs367552783
- ClinGen CA623191
- ClinVar RCV003088295
- ClinVar RCV005050726
- Uncertain significance
- Bartter disease type 3; Bartter disease type 4B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.30
- CADD 19.40
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (Bartter disease type 3; Bartter disease type 4B; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available