R29L (p.Arg29Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
R29L (p.Arg29Leu) 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 Bartter disease type 3; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- 1000Genomes rs544582273
- ExAC rs544582273
- TOPMed rs544582273
- gnomAD rs544582273
- Uncertain significance
- Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.40
- CADD 22.60
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Bartter disease type 3; Bartter disease type 4B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available