G53D (p.Gly53Asp) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G53D (p.Gly53Asp) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- TOPMed rs1466854325
- gnomAD rs1466854325
- Uncertain significance
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.56
- CADD 24.20
- PolyPhen-2 0.66
- SIFT 0.07
- ClinVar: Uncertain significance (Familial renal glucosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available