G77S (p.Gly77Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G77S (p.Gly77Ser) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar 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 0.81 / 1. The record also includes population frequency data and structural context.
G77S (p.Gly77Ser) variant details
- p.Gly77Ser
- ESP rs368277683
- ExAC rs368277683
- TOPMed rs368277683
- gnomAD rs368277683
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- UniProt: Likely pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available