Q44P (p.Gln44Pro) variant of TBP (TATA-box-binding protein)
Q44P (p.Gln44Pro) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q44P (p.Gln44Pro) variant details
- p.Gln44Pro
- ExAC rs761867883
- gnomAD rs761867883
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.48
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available