E76E (p.Glu76Glu) variant of TBK1 (Q9UHD2)
E76E (p.Glu76Glu) in TBK1 (Q9UHD2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E76E (p.Glu76Glu) variant details
- p.Glu76Glu
- gnomAD 12-64460329-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available