Q76H (p.Gln76His) variant of TBP (TATA-box-binding protein)
Q76H (p.Gln76His) in TBP (TATA-box-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
Q76H (p.Gln76His) variant details
- p.Gln76His
- ExAC rs112083427
- gnomAD rs112083427
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.09
- CADD 10.40
- PolyPhen-2 0.22
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available