R351W (p.Arg351Trp) variant of CLCNKB (Chloride channel protein ClC-Kb)
R351W (p.Arg351Trp) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.65 / 1. The record also includes population frequency data and structural context.
R351W (p.Arg351Trp) variant details
- p.Arg351Trp
- rs368504008
- ClinGen CA623674
- ClinVar RCV001951267
- ClinVar RCV005050483
- Pathogenic/Likely pathogenic
- Bartter disease type 3; Bartter disease type 4B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.75
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bartter disease type 3; Bartter disease type 4B; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available