Q76P (p.Gln76Pro) variant of TBP (TATA-box-binding protein)
Q76P (p.Gln76Pro) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q76P (p.Gln76Pro) variant details
- p.Gln76Pro
- gnomAD 6-170561962-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 21.60
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available