K69R (p.Lys69Arg) variant of TBK1 (Q9UHD2)
K69R (p.Lys69Arg) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K69R (p.Lys69Arg) variant details
- p.Lys69Arg
- gnomAD 12-64460307-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.41
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available