R321W (p.Arg321Trp) variant of SLC12A3 (P55017)
R321W (p.Arg321Trp) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal tubulopathies; not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R321W (p.Arg321Trp) variant details
- p.Arg321Trp
- rs150046661
- ClinGen CA8069270
- ClinVar RCV001379116
- ClinVar RCV001831367
- Pathogenic/Likely pathogenic
- Renal tubulopathies; not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Renal tubulopathies; not provided; Familial hypokalemia-hypomagn)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available
- Cited in: Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. (PMID 11168953)
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)