E43D (p.Glu43Asp) variant of ABL2 (Tyrosine-protein kinase ABL2)
E43D (p.Glu43Asp) in ABL2 (Tyrosine-protein kinase ABL2) 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.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- TOPMed rs868544684
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.21
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available