E44* (p.Glu44Ter) variant of BAX (Apoptosis regulator BAX)
E44* (p.Glu44Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- gnomAD 19-48955730-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available