V617I (p.Val617Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
V617I (p.Val617Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombocythemia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
V617I (p.Val617Ile) variant details
- p.Val617Ile
- rs77375493
- ClinGen CA128623
- ClinVar RCV000022629
- UniProt VAR 067534
- Pathogenic
- Thrombocythemia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.39
- MetaLR 0.68
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Thrombocythemia 3)
- EBI: Pathogenic (in THCYT3)
- UniProt: Pathogenic (in THCYT3)
- Structural context available
- Cited in: Germline JAK2 mutation in a family with hereditary thrombocytosis. (PMID 22397670)
- Cited in: Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation… (PMID 16325696)