Q70H (p.Gln70His) variant of TBP (TATA-box-binding protein)
Q70H (p.Gln70His) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q70H (p.Gln70His) variant details
- p.Gln70His
- gnomAD 6-170561945-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available