Q76A (p.Gln76Ala) variant of TBP (TATA-box-binding protein)
Q76A (p.Gln76Ala) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q76A (p.Gln76Ala) variant details
- p.Gln76Ala
- rs1491171766
- gnomAD 6-170561960-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 21.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available