T51I (p.Thr51Ile) variant of SLC5A2 (Sodium/glucose cotransporter 2)
T51I (p.Thr51Ile) 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 0.83 / 1. The record also includes structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs2082481220
- ClinGen CA395751388
- ClinVar RCV001118965
- Ensembl rs2082481220
- Uncertain significance
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.66
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.64
- ClinVar: Uncertain significance (Familial renal glucosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available