Q44P (p.Gln44Pro) variant of H6PD (O95479)
Q44P (p.Gln44Pro) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q44P (p.Gln44Pro) variant details
- p.Gln44Pro
- ExAC rs778375210
- TOPMed rs778375210
- gnomAD rs778375210
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.32
- MetaLR 0.06
- MetaSVM -1.05
- CADD 26.70
- PolyPhen-2 0.94
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available