V49A (p.Val49Ala) variant of TBK1 (Q9UHD2)
V49A (p.Val49Ala) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- gnomAD 12-64460247-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.08
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available