R40L (p.Arg40Leu) variant of ABL2 (Tyrosine-protein kinase ABL2)
R40L (p.Arg40Leu) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- ExAC rs748250030
- TOPMed rs748250030
- gnomAD rs748250030
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available