L46F (p.Leu46Phe) variant of TBK1 (Q9UHD2)
L46F (p.Leu46Phe) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- gnomAD 12-64460237-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.23
- CADD 27.70
- PolyPhen-2 0.93
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available