A467V (p.Ala467Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
A467V (p.Ala467Val) 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 0.89 / 1. The record also includes structural context.
A467V (p.Ala467Val) variant details
- p.Ala467Val
- rs1570340095
- ClinGen CA338641743
- ClinVar RCV000986256
- Ensembl rs1570340095
- Likely pathogenic
- Bartter disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.79
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Bartter disease type 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available