E55G (p.Glu55Gly) variant of TBK1 (Q9UHD2)
E55G (p.Glu55Gly) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E55G (p.Glu55Gly) variant details
- p.Glu55Gly
- gnomAD 12-64460265-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.83
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available