D50N (p.Asp50Asn) variant of TBK1 (Q9UHD2)
D50N (p.Asp50Asn) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- ExAC rs771124028
- TOPMed rs771124028
- gnomAD rs771124028
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.26
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available