R209W (p.Arg209Trp) variant of SLC12A3 (P55017)
R209W (p.Arg209Trp) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R209W (p.Arg209Trp) variant details
- p.Arg209Trp
- rs28936388
- ClinGen CA119768
- cosmic curated COSV10728
- ClinVar RCV000009117
- Pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the… (PMID 8528245)