D83H (p.Asp83His) variant of ABL2 (Tyrosine-protein kinase ABL2)
D83H (p.Asp83His) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
D83H (p.Asp83His) variant details
- p.Asp83His
- TOPMed rs535204533
- gnomAD rs535204533
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.20
- CADD 25.50
- PolyPhen-2 0.76
- SIFT 0.00
- Population evidence available