E6* (p.Glu6Ter) variant of BAX (Apoptosis regulator BAX)
E6* (p.Glu6Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- 1000Genomes rs536405925
- TOPMed rs536405925
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.839
- CADD 50.00
- Population evidence available
- Structural context available