L35V (p.Leu35Val) variant of SLC5A2 (Sodium/glucose cotransporter 2)
L35V (p.Leu35Val) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial renal glucosuria; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- 1000Genomes rs200267514
- ExAC rs200267514
- TOPMed rs200267514
- gnomAD rs200267514
- Uncertain significance
- Familial renal glucosuria; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.18
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.87
- ClinVar: Uncertain significance (Familial renal glucosuria; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available