A588V (p.Ala588Val) variant of SLC12A3 (P55017)
A588V (p.Ala588Val) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A588V (p.Ala588Val) variant details
- p.Ala588Val
- rs121909382
- ClinGen CA119774
- cosmic curated COSV52635
- ClinVar RCV000009122
- Pathogenic/Likely pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available
- Cited in: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the… (PMID 8528245)
- Cited in: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. (PMID 8900229)