Q71H (p.Gln71His) variant of TBP (TATA-box-binding protein)
Q71H (p.Gln71His) in TBP (TATA-box-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q71H (p.Gln71His) variant details
- p.Gln71His
- rs1419176062
- gnomAD 6-170561948-AGCAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 25.80
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available