G201V (p.Gly201Val) variant of SLC12A3 (P55017)
G201V (p.Gly201Val) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G201V (p.Gly201Val) variant details
- p.Gly201Val
- rs2144689378
- ClinGen CA395981416
- ClinVar RCV001938033
- ClinVar RCV002243481
- Likely pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Likely pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)