Q75R (p.Gln75Arg) variant of TBP (TATA-box-binding protein)
Q75R (p.Gln75Arg) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q75R (p.Gln75Arg) variant details
- p.Gln75Arg
- rs1348161234
- gnomAD 6-170561959-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 21.20
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available