Q44R (p.Gln44Arg) variant of H6PD (O95479)
Q44R (p.Gln44Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- ExAC rs778375210
- TOPMed rs778375210
- gnomAD rs778375210
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.45
- MetaLR 0.33
- MetaSVM -0.57
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available