G439S (p.Gly439Ser) variant of SLC12A3 (P55017)
G439S (p.Gly439Ser) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Familial hypokalemia-hypomagnesemia; not provided. 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.
G439S (p.Gly439Ser) variant details
- p.Gly439Ser
- rs759377924
- ClinGen CA8069419
- ClinVar RCV000713326
- ClinVar RCV000760979
- Pathogenic
- Inborn genetic diseases; Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Inborn genetic diseases; Familial hypokalemia-hypomagnesemia; no)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. (PMID 10988270)
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)