I48M (p.Ile48Met) variant of ABL2 (Tyrosine-protein kinase ABL2)
I48M (p.Ile48Met) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
I48M (p.Ile48Met) variant details
- p.Ile48Met
- TOPMed rs923070533
- gnomAD rs923070533
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.31
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available