Q75T (p.Gln75Thr) variant of TBP (TATA-box-binding protein)
Q75T (p.Gln75Thr) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q75T (p.Gln75Thr) variant details
- p.Gln75Thr
- gnomAD 6-170561958-A-AAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 20.90
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available