Q77A (p.Gln77Ala) variant of TBP (TATA-box-binding protein)
Q77A (p.Gln77Ala) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q77A (p.Gln77Ala) variant details
- p.Gln77Ala
- rs1491487452
- gnomAD 6-170561963-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 24.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available