Q75A (p.Gln75Ala) variant of TBP (TATA-box-binding protein)
Q75A (p.Gln75Ala) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q75A (p.Gln75Ala) variant details
- p.Gln75Ala
- rs1779150506
- gnomAD 6-170561958-A-AGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 20.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available