Y432H (p.Tyr432His) variant of CLCNKB (Chloride channel protein ClC-Kb)
Y432H (p.Tyr432His) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bartter disease type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y432H (p.Tyr432His) variant details
- p.Tyr432His
- rs121909135
- ClinGen CA118916
- ClinVar RCV000008033
- UniProt VAR 001627
- Pathogenic
- Bartter disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.56
- CADD 17.30
- PolyPhen-2 0.87
- SIFT 0.02
- ClinVar: Pathogenic (Bartter disease type 3)
- EBI: Pathogenic (in BARTS3)
- UniProt: Pathogenic (in BARTS3)
- Population evidence available
- Structural context available
- Cited in: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. (PMID 9326936)
- Cited in: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. (PMID 10906158)