D50V (p.Asp50Val) variant of TBK1 (Q9UHD2)
D50V (p.Asp50Val) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D50V (p.Asp50Val) variant details
- p.Asp50Val
- gnomAD 12-64460250-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.57
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available