D52Y (p.Asp52Tyr) variant of SLC2A2 (P11168)
D52Y (p.Asp52Tyr) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D52Y (p.Asp52Tyr) variant details
- p.Asp52Tyr
- TOPMed rs1311902495
- gnomAD rs1311902495
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.48
- CADD 24.70
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available