C421Y (p.Cys421Tyr) variant of SLC12A3 (P55017)
C421Y (p.Cys421Tyr) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C421Y (p.Cys421Tyr) variant details
- p.Cys421Tyr
- rs781342495
- ClinGen CA8069409
- ClinVar RCV001972830
- ClinVar RCV003331251
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)