Q69A (p.Gln69Ala) variant of TBP (TATA-box-binding protein)
Q69A (p.Gln69Ala) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q69A (p.Gln69Ala) variant details
- p.Gln69Ala
- rs1491092074
- gnomAD 6-170561939-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 18.50
- Population evidence available
- Structural context available
- Literature evidence available