L46I (p.Leu46Ile) variant of TBK1 (Q9UHD2)
L46I (p.Leu46Ile) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L46I (p.Leu46Ile) variant details
- p.Leu46Ile
- gnomAD 12-64460237-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.20
- CADD 24.20
- PolyPhen-2 0.72
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available