Q77S (p.Gln77Ser) variant of TBP (TATA-box-binding protein)
Q77S (p.Gln77Ser) 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.
Q77S (p.Gln77Ser) variant details
- p.Gln77Ser
- gnomAD 6-170561964-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 24.50
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available