p.Gln75 Gln76insLys variant of TBP (TATA-box-binding protein)
p.Gln75 Gln76insLys in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln75 Gln76insLys variant details
- gnomAD 6-170561961-G-GAA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 7.87
- Population evidence available
- Structural context available
- Literature evidence available