T20S (p.Thr20Ser) variant of TBK1 (Q9UHD2)
T20S (p.Thr20Ser) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T20S (p.Thr20Ser) variant details
- p.Thr20Ser
- gnomAD 12-64455929-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.37
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available