Q7* (p.Gln7Ter) variant of BAX (Apoptosis regulator BAX)
Q7* (p.Gln7Ter) 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.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- gnomAD 19-48954947-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 40.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available