Q52K (p.Gln52Lys) variant of TBK1 (Q9UHD2)
Q52K (p.Gln52Lys) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q52K (p.Gln52Lys) variant details
- p.Gln52Lys
- gnomAD 12-64460255-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.30
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available