D835Y (p.Asp835Tyr) variant of FLT3 (P36888)
D835Y (p.Asp835Tyr) in FLT3 (P36888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acute myeloid leukemia; Acute lymphoid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
D835Y (p.Asp835Tyr) variant details
- p.Asp835Tyr
- rs121913488
- ClinGen CA126347
- ClinVar RCV000017665
- ClinVar RCV000017666
- Pathogenic
- Acute myeloid leukemia; Acute lymphoid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.76
- MetaLR 0.61
- MetaSVM 0.25
- PolyPhen-2 0.96
- SIFT 0.01
- MutPred 0.79
- ClinVar: Pathogenic (Acute myeloid leukemia; Acute lymphoid leukemia)
- EBI: Pathogenic (in acute lymphoblastic leukemia patients and in acute myelogenou)
- UniProt: Pathogenic (in acute lymphoblastic leukemia patients and in acute myelogenou)
- Structural context available
- Cited in: Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. (PMID 11290608)
- Cited in: Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia. (PMID 11442493)