Q71A (p.Gln71Ala) variant of TBP (TATA-box-binding protein)
Q71A (p.Gln71Ala) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q71A (p.Gln71Ala) variant details
- p.Gln71Ala
- rs1491456401
- gnomAD 6-170561945-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available