Q18* (p.Gln18Ter) variant of BAX (Apoptosis regulator BAX)
Q18* (p.Gln18Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- gnomAD 19-48955565-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 42.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available