G13R (p.Gly13Arg) variant of ABL2 (Tyrosine-protein kinase ABL2)
G13R (p.Gly13Arg) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- ExAC rs758479290
- TOPMed rs758479290
- gnomAD rs758479290
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.64
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available