E236K (p.Glu236Lys) variant of ABL1 (Tyrosine-protein kinase ABL1)
E236K (p.Glu236Lys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, 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 0.66 / 1. The record also includes published literature and structural context.
E236K (p.Glu236Lys) variant details
- p.Glu236Lys
- rs387906517
- ClinGen CA122581
- cosmic curated COSV10738
- ClinVar RCV000013461
- Pathogenic
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Leukemia, Philadelphia chromosome-positive, resistant to imatini)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Roots of clinical resistance to STI-571 cancer therapy. (PMID 11569495)
- Cited in: BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a… (PMID 11853795)