G731R (p.Gly731Arg) variant of SLC12A3 (P55017)
G731R (p.Gly731Arg) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G731R (p.Gly731Arg) variant details
- p.Gly731Arg
- rs752101663
- ClinGen CA8069791
- cosmic curated COSV10806
- ClinVar RCV000681801
- Likely pathogenic
- not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.92
- MetaLR 0.56
- MetaSVM 0.42
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. (PMID 10988270)
- Cited in: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. (PMID 8900229)