Q62R (p.Gln62Arg) variant of TBP (TATA-box-binding protein)
Q62R (p.Gln62Arg) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q62R (p.Gln62Arg) variant details
- p.Gln62Arg
- gnomAD 6-170561915-A-AGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 24.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available