R40S (p.Arg40Ser) variant of ABL2 (Tyrosine-protein kinase ABL2)
R40S (p.Arg40Ser) 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.
R40S (p.Arg40Ser) variant details
- p.Arg40Ser
- TOPMed rs1344414390
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available