Y253H (p.Tyr253His) variant of ABL1 (Tyrosine-protein kinase ABL1)
Y253H (p.Tyr253His) 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 0.70 / 1. The record also includes published literature and structural context.
Y253H (p.Tyr253His) variant details
- p.Tyr253His
- rs121913461
- ClinGen CA122584
- cosmic curated COSV59325
- ClinVar RCV000013462
- Pathogenic
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- 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)