R29H (p.Arg29His) variant of CLCNKB (Chloride channel protein ClC-Kb)
R29H (p.Arg29His) 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 not provided; Bartter disease type 3; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs544582273
- ClinGen CA623152
- cosmic curated COSV10099
- ClinVar RCV002937286
- Uncertain significance
- not provided; Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.47
- CADD 22.80
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Bartter disease type 3; Bartter disease type 4B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available