R642C (p.Arg642Cys) variant of SLC12A3 (P55017)
R642C (p.Arg642Cys) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R642C (p.Arg642Cys) variant details
- p.Arg642Cys
- rs200697179
- ClinGen CA8069651
- cosmic curated COSV52635
- ClinVar RCV001215299
- Pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. (PMID 10616841)
- Cited in: Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. (PMID 15069170)