D835V (p.Asp835Val) variant of FLT3 (P36888)
D835V (p.Asp835Val) in FLT3 (P36888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acute lymphoid leukemia; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
D835V (p.Asp835Val) variant details
- p.Asp835Val
- rs121909646
- Civic 1302
- ClinGen CA126344
- NCI-TCGA Cosmic COSV5404
- Pathogenic
- Acute lymphoid leukemia; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.97
- MetaLR 0.59
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Pathogenic (Acute lymphoid leukemia; Acute myeloid 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: FLT3 mutations in childhood acute lymphoblastic leukemia. (PMID 14670924)