H64Q (p.His64Gln) variant of TBK1 (Q9UHD2)
H64Q (p.His64Gln) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
H64Q (p.His64Gln) variant details
- p.His64Gln
- gnomAD 12-64460293-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.82
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available