E57K (p.Glu57Lys) variant of TBK1 (Q9UHD2)
E57K (p.Glu57Lys) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- gnomAD 12-64460270-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.51
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available