F40L (p.Phe40Leu) variant of TBK1 (Q9UHD2)
F40L (p.Phe40Leu) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- gnomAD 12-64460219-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.56
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available