W154R (p.Trp154Arg) variant of MPL (Thrombopoietin receptor)
W154R (p.Trp154Arg) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombocythemia 2; Primary myelofibrosis; Congenital amegakaryocytic thrombocyto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
W154R (p.Trp154Arg) variant details
- p.Trp154Arg
- rs758428763
- ClinGen CA806682
- ClinVar RCV002025904
- ClinVar RCV002486650
- Pathogenic/Likely pathogenic
- Thrombocythemia 2; Primary myelofibrosis; Congenital amegakaryocytic thrombocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.85
- MetaLR 0.90
- MetaSVM 1.02
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombocythemia 2; Primary myelofibrosis; Congenital amegakaryoc)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts… (PMID 16470591)
- Cited in: The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin… (PMID 25538044)