I28T (p.Ile28Thr) variant of SLC2A2 (P11168)
I28T (p.Ile28Thr) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I28T (p.Ile28Thr) variant details
- p.Ile28Thr
- TOPMed rs1049223265
- gnomAD rs1049223265
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.30
- CADD 18.30
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available