C421G (p.Cys421Gly) variant of SLC12A3 (P55017)
C421G (p.Cys421Gly) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
C421G (p.Cys421Gly) variant details
- p.Cys421Gly
- rs28936387
- ClinGen CA395985927
- ClinVar RCV001663810
- ClinVar RCV002502009
- Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.93
- MetaLR 0.45
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)