E76* (p.Glu76Ter) variant of TBK1 (Q9UHD2)
E76* (p.Glu76Ter) in TBK1 (Q9UHD2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E76* (p.Glu76Ter) variant details
- p.Glu76Ter
- gnomAD 12-64460327-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available