Q73T (p.Gln73Thr) variant of TBP (TATA-box-binding protein)
Q73T (p.Gln73Thr) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q73T (p.Gln73Thr) variant details
- p.Gln73Thr
- rs1562359486
- gnomAD 6-170561952-A-AAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 19.80
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available