L59S (p.Leu59Ser) variant of TBK1 (Q9UHD2)
L59S (p.Leu59Ser) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L59S (p.Leu59Ser) variant details
- p.Leu59Ser
- gnomAD 12-64460277-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.84
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available