R9* (p.Arg9Ter) variant of BAX (Apoptosis regulator BAX)
R9* (p.Arg9Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- gnomAD 19-48954953-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 37.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available