Q77R (p.Gln77Arg) variant of TBP (TATA-box-binding protein)
Q77R (p.Gln77Arg) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q77R (p.Gln77Arg) variant details
- p.Gln77Arg
- gnomAD 6-170561965-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 26.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available