F45L (p.Phe45Leu) variant of TBK1 (Q9UHD2)
F45L (p.Phe45Leu) in TBK1 (Q9UHD2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F45L (p.Phe45Leu) variant details
- p.Phe45Leu
- 1000Genomes rs11538420
- ESP rs11538420
- ExAC rs11538420
- TOPMed rs11538420
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.38
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available