D52E (p.Asp52Glu) variant of H6PD (O95479)
D52E (p.Asp52Glu) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- gnomAD 1-9245090-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.31
- MetaLR 0.74
- MetaSVM -0.46
- CADD 0.45
- PolyPhen-2 0.02
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available