Q70A (p.Gln70Ala) variant of TBP (TATA-box-binding protein)
Q70A (p.Gln70Ala) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q70A (p.Gln70Ala) variant details
- p.Gln70Ala
- gnomAD 6-170561942-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 18.40
- Population evidence available
- Structural context available
- Literature evidence available