Q62A (p.Gln62Ala) variant of TBP (TATA-box-binding protein)
Q62A (p.Gln62Ala) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q62A (p.Gln62Ala) variant details
- p.Gln62Ala
- gnomAD 6-170561919-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 23.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available