E255K (p.Glu255Lys) variant of ABL1 (Tyrosine-protein kinase ABL1)
E255K (p.Glu255Lys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Leukemia, Philadelphia chromosome-positive, resistant to imatinib. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E255K (p.Glu255Lys) variant details
- p.Glu255Lys
- cosmic curated COSV59325
- Ensembl rs121913448
- Pathogenic
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.84
- MetaLR 0.61
- MetaSVM 0.27
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Leukemia, Philadelphia chromosome-positive, resistant to imatini)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available