R852C (p.Arg852Cys) variant of SLC12A3 (P55017)
R852C (p.Arg852Cys) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Renal tubulopathies; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R852C (p.Arg852Cys) variant details
- p.Arg852Cys
- rs373899077
- ClinGen CA8069966
- ClinVar RCV000504824
- ClinVar RCV000823519
- Pathogenic
- not provided; Renal tubulopathies; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.85
- MetaLR 0.87
- MetaSVM 0.76
- CADD 25.00
- PolyPhen-2 0.87
- SIFT 0.48
- ClinVar: Pathogenic (not provided; Renal tubulopathies; Familial hypokalemia-hypomagn)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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)