D52N (p.Asp52Asn) variant of SLC2A2 (P11168)
D52N (p.Asp52Asn) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- TOPMed rs1311902495
- gnomAD rs1311902495
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.49
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available