K30R (p.Lys30Arg) variant of TBK1 (Q9UHD2)
K30R (p.Lys30Arg) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- gnomAD 12-64460190-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.27
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available