Q44* (p.Gln44Ter) variant of TBP (TATA-box-binding protein)
Q44* (p.Gln44Ter) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- gnomAD 6-170561866-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available