p.Gln76 Gln77insTer variant of TBP (TATA-box-binding protein)
p.Gln76 Gln77insTer in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln76 Gln77insTer variant details
- gnomAD 6-170561962-C-CAA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 23.20
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available