A72D (p.Ala72Asp) variant of TBK1 (Q9UHD2)
A72D (p.Ala72Asp) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A72D (p.Ala72Asp) variant details
- p.Ala72Asp
- gnomAD 12-64460316-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.46
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available