T47I (p.Thr47Ile) variant of SLC2A1 (P11166)
T47I (p.Thr47Ile) in SLC2A1 (P11166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- 1000Genomes rs571371116
- ExAC rs571371116
- gnomAD rs571371116
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.76
- CADD 24.00
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available