R92W (p.Arg92Trp) variant of CLCNKB (Chloride channel protein ClC-Kb)
R92W (p.Arg92Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R92W (p.Arg92Trp) variant details
- p.Arg92Trp
- rs777305169
- ClinGen CA623253
- cosmic curated COSV10099
- ClinVar RCV001535929
- Pathogenic/Likely pathogenic
- Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.77
- CADD 25.80
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bartter disease type 3; Bartter disease type 4B)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available