E34A (p.Glu34Ala) variant of AXL (P30530)
E34A (p.Glu34Ala) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
E34A (p.Glu34Ala) variant details
- p.Glu34Ala
- gnomAD 19-41220651-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0677
- REVEL 0.07
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available