R479G (p.Arg479Gly) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R479G (p.Arg479Gly) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
R479G (p.Arg479Gly) variant details
- p.Arg479Gly
- rs387906682
- ClinGen CA10602357
- ClinVar RCV000408654
- Ensembl rs387906682
- Pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- AlphaMissense 0.30
- MetaLR 0.83
- MetaSVM 0.74
- PolyPhen-2 0.97
- SIFT 0.01
- MutPred 0.90
- ClinVar: Pathogenic (Familial renal glucosuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. (PMID 21165652)