Q12E (p.Gln12Glu) variant of TBP (TATA-box-binding protein)
Q12E (p.Gln12Glu) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- gnomAD 6-170557063-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.10
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available