M351T (p.Met351Thr) variant of ABL1 (Tyrosine-protein kinase ABL1)
M351T (p.Met351Thr) 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 Chronic myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
M351T (p.Met351Thr) variant details
- p.Met351Thr
- rs121913457
- ClinGen CA122590
- cosmic curated COSV59325
- ClinVar RCV000420800
- Pathogenic
- Chronic myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Chronic myeloid leukemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and… (PMID 12130516)
- Cited in: Managing children with chronic myeloid leukaemia (CML): recommendations for the management of CML in children and young… (PMID 24976289)