K38R (p.Lys38Arg) variant of TBK1 (Q9UHD2)
K38R (p.Lys38Arg) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
K38R (p.Lys38Arg) variant details
- p.Lys38Arg
- gnomAD 12-64460214-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.73
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available