K30K (p.Lys30Lys) variant of TBK1 (Q9UHD2)
K30K (p.Lys30Lys) in TBK1 (Q9UHD2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K30K (p.Lys30Lys) variant details
- p.Lys30Lys
- gnomAD 12-64460191-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available