Q73A (p.Gln73Ala) variant of TBP (TATA-box-binding protein)
Q73A (p.Gln73Ala) 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.
Q73A (p.Gln73Ala) variant details
- p.Gln73Ala
- gnomAD 6-170561952-A-AGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available