Q17L (p.Gln17Leu) variant of TBK1 (Q9UHD2)
Q17L (p.Gln17Leu) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q17L (p.Gln17Leu) variant details
- p.Gln17Leu
- ExAC rs747864223
- gnomAD rs747864223
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.52
- CADD 29.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available