R19C (p.Arg19Cys) variant of SLC12A3 (P55017)
R19C (p.Arg19Cys) 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. 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.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs374055486
- ClinGen CA8068902
- cosmic curated COSV99343
- ClinVar RCV001004939
- Likely pathogenic
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)