R8H (p.Arg8His) variant of CLCNKB (Chloride channel protein ClC-Kb)
R8H (p.Arg8His) 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 4B; Bartter disease type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- rs387907411
- ClinGen CA216012
- ClinVar RCV000054567
- ClinVar RCV002483072
- Uncertain significance
- Bartter disease type 4B; Bartter disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.30
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Bartter disease type 4B; Bartter disease type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available