K21* (p.Lys21Ter) variant of BAX (Apoptosis regulator BAX)
K21* (p.Lys21Ter) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
K21* (p.Lys21Ter) variant details
- p.Lys21Ter
- gnomAD 19-48955573-G-GT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 35.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available