E76D (p.Glu76Asp) variant of TBK1 (Q9UHD2)
E76D (p.Glu76Asp) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E76D (p.Glu76Asp) variant details
- p.Glu76Asp
- gnomAD 12-64460329-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.31
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available