E57G (p.Glu57Gly) variant of TBK1 (Q9UHD2)
E57G (p.Glu57Gly) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E57G (p.Glu57Gly) variant details
- p.Glu57Gly
- gnomAD 12-64460271-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.66
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available