G484D (p.Gly484Asp) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G484D (p.Gly484Asp) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G484D (p.Gly484Asp) variant details
- p.Gly484Asp
- rs1309307492
- ClinGen CA395755458
- ClinVar RCV000505656
- TOPMed rs1309307492
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available