E236V (p.Glu236Val) variant of ABL1 (Tyrosine-protein kinase ABL1)
E236V (p.Glu236Val) 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 0.48 / 1. The record also includes published literature and structural context.
E236V (p.Glu236Val) variant details
- p.Glu236Val
- rs387906516
- ClinGen CA122578
- ClinVar RCV000013460
- Ensembl rs387906516
- Pathogenic
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Leukemia, Philadelphia chromosome-positive, resistant to imatini)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a… (PMID 11853795)