Q73* (p.Gln73Ter) variant of BAK1 (Q16611)
Q73* (p.Gln73Ter) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- gnomAD 6-33575431-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 40.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available