Q74* (p.Gln74Ter) variant of H6PD (O95479)
Q74* (p.Gln74Ter) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q74* (p.Gln74Ter) variant details
- p.Gln74Ter
- TOPMed rs1451746210
- gnomAD rs1451746210
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available