I52T (p.Ile52Thr) variant of SLC2A4 (P14672)
I52T (p.Ile52Thr) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- ExAC rs764370457
- TOPMed rs764370457
- gnomAD rs764370457
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.85
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available