G463E (p.Gly463Glu) variant of SLC12A3 (P55017)
G463E (p.Gly463Glu) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G463E (p.Gly463Glu) variant details
- p.Gly463Glu
- rs1375515522
- ClinGen CA395987546
- ClinVar RCV001980278
- ClinVar RCV002243499
- Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Population evidence available
- 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: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)