Q77H (p.Gln77His) variant of TBP (TATA-box-binding protein)
Q77H (p.Gln77His) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q77H (p.Gln77His) variant details
- p.Gln77His
- rs1779153082
- gnomAD 6-170561966-AGCAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 26.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available