R27C (p.Arg27Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
R27C (p.Arg27Cys) 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 Inborn genetic diseases; Bartter disease type 3; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- cosmic curated COSV65160
- ESP rs370236747
- ExAC rs370236747
- TOPMed rs370236747
- Uncertain significance
- Inborn genetic diseases; Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.53
- CADD 22.80
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Bartter disease type 3; Bartter disease)
- EBI: Variant of uncertain significance (in dbSNP:rs2015352)
- UniProt: Uncertain significance (in dbSNP:rs2015352)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available