R40H (p.Arg40His) variant of ABL2 (Tyrosine-protein kinase ABL2)
R40H (p.Arg40His) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
R40H (p.Arg40His) variant details
- p.Arg40His
- ExAC rs748250030
- TOPMed rs748250030
- gnomAD rs748250030
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available