V39I (p.Val39Ile) variant of SLC5A2 (Sodium/glucose cotransporter 2)
V39I (p.Val39Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- rs202149151
- NCI-TCGA Cosmic COSV5789
- ExAC rs202149151
- TOPMed rs202149151
- Uncertain significance
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.44
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.09
- ClinVar: Uncertain significance (Familial renal glucosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available