I39T (p.Ile39Thr) variant of SLC2A2 (P11168)
I39T (p.Ile39Thr) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- TOPMed rs1176350402
- gnomAD rs1176350402
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.11
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available