R642H (p.Arg642His) variant of SLC12A3 (P55017)
R642H (p.Arg642His) 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; not provided; Renal tubulopathies. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R642H (p.Arg642His) variant details
- p.Arg642His
- rs147901432
- ClinGen CA8069652
- ClinVar RCV000362354
- ClinVar RCV000993002
- Pathogenic
- Familial hypokalemia-hypomagnesemia; not provided; Renal tubulopathies
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial hypokalemia-hypomagnesemia; not provided; Renal tubulop)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients… (PMID 12112667)
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)