E74* (p.Glu74Ter) variant of TBK1 (Q9UHD2)
E74* (p.Glu74Ter) in TBK1 (Q9UHD2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E74* (p.Glu74Ter) variant details
- p.Glu74Ter
- gnomAD 12-64460321-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available