p.Gln74 Gln95del variant of TBP (TATA-box-binding protein)
p.Gln74 Gln95del in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln74 Gln95del variant details
- rs1562359336
- gnomAD 6-170561906-GGCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 16.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available