V51I (p.Val51Ile) variant of TBK1 (Q9UHD2)
V51I (p.Val51Ile) 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.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- gnomAD 12-64460252-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.28
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available