p.Gln70 Gln71insLeu variant of TBP (TATA-box-binding protein)
p.Gln70 Gln71insLeu in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln70 Gln71insLeu variant details
- rs1416336210
- gnomAD 6-170561945-A-AGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 5.12
- Population evidence available
- Structural context available
- Literature evidence available