R34* (p.Arg34Ter) variant of BAX (Apoptosis regulator BAX)
R34* (p.Arg34Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- ExAC rs752527728
- gnomAD rs752527728
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 40.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available