R30Q (p.Arg30Gln) variant of CLCNKB (Chloride channel protein ClC-Kb)
R30Q (p.Arg30Gln) 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 0.43 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- TOPMed rs1400214347
- gnomAD rs1400214347
- Uncertain significance
- not provided; Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.50
- CADD 21.70
- PolyPhen-2 1.00
- SIFT 0.10
- 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 African/African-American population (allele frequency 0.00012)
- Structural context available