Q44* (p.Gln44Ter) variant of H6PD (O95479)
Q44* (p.Gln44Ter) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- ExAC rs746398496
- TOPMed rs746398496
- gnomAD rs746398496
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available