R78C (p.Arg78Cys) variant of ABL2 (Tyrosine-protein kinase ABL2)
R78C (p.Arg78Cys) 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 0.50 / 1. The record also includes population frequency data.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- rs371509729
- ClinGen CA1265187
- cosmic curated COSV61010
- ClinVar RCV004200945
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.26
- CADD 30.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs55655202)
- UniProt: Uncertain significance (in dbSNP:rs55655202)
- Population evidence available