p.Gln75 Gln95del variant of TBP (TATA-box-binding protein)
p.Gln75 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.Gln75 Gln95del variant details
- rs1779144969
- gnomAD 6-170561906-GGCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 16.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available