S44R (p.Ser44Arg) variant of TBK1 (Q9UHD2)
S44R (p.Ser44Arg) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- gnomAD 12-64460233-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.37
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available