G45R (p.Gly45Arg) variant of H6PD (O95479)
G45R (p.Gly45Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- ExAC rs199815320
- TOPMed rs199815320
- gnomAD rs199815320
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available