R438H (p.Arg438His) variant of CLCNKB (Chloride channel protein ClC-Kb)
R438H (p.Arg438His) 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 syndrome; Bartter disease type 3; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R438H (p.Arg438His) variant details
- p.Arg438His
- rs201540273
- ClinGen CA623812
- NCI-TCGA Cosmic COSV6516
- cosmic curated COSV65161
- Pathogenic
- Bartter syndrome; Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Bartter syndrome; Bartter disease type 3; Bartter disease type 4)
- EBI: Pathogenic (in BARTS3)
- UniProt: Pathogenic (in BARTS3)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. (PMID 10906158)
- Cited in: Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PMID 11734858)