C430G (p.Cys430Gly) variant of SLC12A3 (P55017)
C430G (p.Cys430Gly) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
C430G (p.Cys430Gly) variant details
- p.Cys430Gly
- rs2144711663
- ClinGen CA395986127
- ClinVar RCV001949662
- ClinVar RCV004690200
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.89
- MetaLR 0.58
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)