p.Gln72 Gln95del variant of TBP (TATA-box-binding protein)
p.Gln72 Gln95del in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln72 Gln95del variant details
- gnomAD 6-170561925-ACAGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 15.40
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available