R132C (p.Arg132Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R132C (p.Arg132Cys) 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 0.86 / 1. The record also includes population frequency data and structural context.
R132C (p.Arg132Cys) variant details
- p.Arg132Cys
- ExAC rs768579234
- TOPMed rs768579234
- gnomAD rs768579234
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available