G45E (p.Gly45Glu) variant of H6PD (O95479)
G45E (p.Gly45Glu) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G45E (p.Gly45Glu) variant details
- p.Gly45Glu
- TOPMed rs1245519061
- gnomAD rs1245519061
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.10
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available