R257L (p.Arg257Leu) variant of MPL (Thrombopoietin receptor)
R257L (p.Arg257Leu) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital amegakaryocytic thrombocytopenia 1. The record also includes variant effect predictions, published literature, and structural context.
R257L (p.Arg257Leu) variant details
- p.Arg257Leu
- UniProt VAR 073036
- Likely pathogenic
- Congenital amegakaryocytic thrombocytopenia 1
- Missense
- MetaLR 0.82
- MetaSVM 0.76
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital amegakaryocytic thrombocytopenia 1)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- 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)