E75K (p.Glu75Lys) variant of TBK1 (Q9UHD2)
E75K (p.Glu75Lys) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- ExAC rs767071622
- TOPMed rs767071622
- gnomAD rs767071622
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.57
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available