G32E (p.Gly32Glu) variant of H6PD (O95479)
G32E (p.Gly32Glu) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- gnomAD 1-9245029-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.95
- MetaLR 0.89
- MetaSVM 1.03
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available