Y80C (p.Tyr80Cys) variant of ABL2 (Tyrosine-protein kinase ABL2)
Y80C (p.Tyr80Cys) 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 0.19 / 1. The record also includes population frequency data.
Y80C (p.Tyr80Cys) variant details
- p.Tyr80Cys
- ESP rs140935116
- ExAC rs140935116
- TOPMed rs140935116
- gnomAD rs140935116
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available