p.Gln72 Gln73insTer variant of TBP (TATA-box-binding protein)
p.Gln72 Gln73insTer in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln72 Gln73insTer variant details
- gnomAD 6-170561950-C-CAG
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 22.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available