D50G (p.Asp50Gly) variant of TBK1 (Q9UHD2)
D50G (p.Asp50Gly) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- gnomAD 12-64460250-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.53
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available