V116M (p.Val116Met) variant of SLC5A2 (Sodium/glucose cotransporter 2)
V116M (p.Val116Met) 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 0.74 / 1. The record also includes population frequency data and structural context.
V116M (p.Val116Met) variant details
- p.Val116Met
- ESP rs146835104
- ExAC rs146835104
- TOPMed rs146835104
- gnomAD rs146835104
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.73
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available