G356S (p.Gly356Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G356S (p.Gly356Ser) 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 0.78 / 1. The record also includes population frequency data and structural context.
G356S (p.Gly356Ser) variant details
- p.Gly356Ser
- gnomAD rs1468032457
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.79
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.05
- 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