F104S (p.Phe104Ser) variant of MPL (Thrombopoietin receptor)
F104S (p.Phe104Ser) 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; Essential thrombocythemia; Thromboc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
F104S (p.Phe104Ser) variant details
- p.Phe104Ser
- rs1196161699
- ClinGen CA339973608
- ClinVar RCV000809390
- ClinVar RCV005029492
- Likely pathogenic
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia; Thromboc
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.78
- MetaLR 0.57
- MetaSVM 0.26
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the African/African-American population (allele frequency 2.4e-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)