M1V (p.Met1Val) variant of SLC12A3 (P55017)
M1V (p.Met1Val) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1319085522
- ClinGen CA395975940
- ClinVar RCV002245154
- Pathogenic
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- MetaLR 0.71
- MetaSVM 0.56
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)