R137C (p.Arg137Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R137C (p.Arg137Cys) 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.
R137C (p.Arg137Cys) variant details
- p.Arg137Cys
- ESP rs373185306
- ExAC rs373185306
- TOPMed rs373185306
- gnomAD rs373185306
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.78
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- 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