V617F (p.Val617Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
V617F (p.Val617Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of JAK2-related disorder; Acute myeloid leukemia; Acquired polycythemia vera. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V617F (p.Val617Phe) variant details
- p.Val617Phe
- Ensembl rs2130556948
- Pathogenic/Likely pathogenic
- JAK2-related disorder; Acute myeloid leukemia; Acquired polycythemia vera
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.88
- AlphaMissense 0.39
- MetaLR 0.68
- MetaSVM 0.44
- CADD 28.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (JAK2-related disorder; Acute myeloid leukemia; Acquired polycyth)
- EBI: Pathogenic (in PV, THCYT3 and AML)
- UniProt: Pathogenic (in PV, THCYT3 and AML)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00087)
- Structural context available
- Cited in: Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. (PMID 15781101)
- Cited in: A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. (PMID 15793561)