T31A (p.Thr31Ala) variant of TBK1 (Q9UHD2)
T31A (p.Thr31Ala) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- gnomAD 12-64460192-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.30
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available