G470R (p.Gly470Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
G470R (p.Gly470Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bartter disease type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
G470R (p.Gly470Arg) variant details
- p.Gly470Arg
- rs2124102347
- ClinGen CA338641785
- ClinVar RCV004527527
- Likely pathogenic
- Bartter disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (Bartter disease type 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available