C82F (p.Cys82Phe) variant of ABL2 (Tyrosine-protein kinase ABL2)
C82F (p.Cys82Phe) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from ClinVar, EBI, 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 0.40 / 1. The record also includes population frequency data.
C82F (p.Cys82Phe) variant details
- p.Cys82Phe
- 1000Genomes rs528004734
- ExAC rs528004734
- TOPMed rs528004734
- gnomAD rs528004734
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.16
- CADD 22.10
- PolyPhen-2 0.13
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available