D50E (p.Asp50Glu) variant of TBK1 (Q9UHD2)
D50E (p.Asp50Glu) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D50E (p.Asp50Glu) variant details
- p.Asp50Glu
- TOPMed rs1305181933
- gnomAD rs1305181933
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.28
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available