T78S (p.Thr78Ser) variant of TBK1 (Q9UHD2)
T78S (p.Thr78Ser) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T78S (p.Thr78Ser) variant details
- p.Thr78Ser
- gnomAD 12-64464337-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.04
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available