G5* (p.Gly5Ter) variant of BAX (Apoptosis regulator BAX)
G5* (p.Gly5Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G5* (p.Gly5Ter) variant details
- p.Gly5Ter
- gnomAD 19-48954943-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available