A14V (p.Ala14Val) variant of AXL (P30530)
A14V (p.Ala14Val) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 19-41219433-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.20
- CADD 21.10
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available