T5I (p.Thr5Ile) variant of SLC5A2 (Sodium/glucose cotransporter 2)
T5I (p.Thr5Ile) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- ExAC rs748202554
- TOPMed rs748202554
- gnomAD rs748202554
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.26
- CADD 9.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available