A313V (p.Ala313Val) variant of SLC12A3 (P55017)
A313V (p.Ala313Val) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; SLC12A3-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A313V (p.Ala313Val) variant details
- p.Ala313Val
- rs140551719
- ClinGen CA8069267
- ClinVar RCV000516845
- ClinVar RCV001274377
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; SLC12A3-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.11
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; SLC12A3-related disorder; n)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)