I29T (p.Ile29Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
I29T (p.Ile29Thr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I29T (p.Ile29Thr) variant details
- p.Ile29Thr
- Ensembl rs1567386849
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.77
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available