A7T (p.Ala7Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A7T (p.Ala7Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs769746256
- ClinGen CA8030565
- ClinVar RCV001118963
- ExAC rs769746256
- Uncertain significance
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.23
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.62
- 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