R102P (p.Arg102Pro) variant of MPL (Thrombopoietin receptor)
R102P (p.Arg102Pro) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital amegakaryocytic thrombocytopenia 1; Primary myelofibrosis; Thrombocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R102P (p.Arg102Pro) variant details
- p.Arg102Pro
- rs28928907
- ClinGen CA123780
- cosmic curated COSV10653
- ClinVar RCV000015221
- Pathogenic
- Congenital amegakaryocytic thrombocytopenia 1; Primary myelofibrosis; Thrombocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.52
- MetaLR 0.43
- MetaSVM -0.12
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Congenital amegakaryocytic thrombocytopenia 1; Primary myelofibr)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. (PMID 10971406)
- Cited in: MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts… (PMID 16470591)