A72S (p.Ala72Ser) variant of TBK1 (Q9UHD2)
A72S (p.Ala72Ser) 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, published literature, and structural context.
A72S (p.Ala72Ser) variant details
- p.Ala72Ser
- gnomAD 12-64460315-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.27
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available