R257C (p.Arg257Cys) variant of MPL (Thrombopoietin receptor)
R257C (p.Arg257Cys) 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 Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Congenit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R257C (p.Arg257Cys) variant details
- p.Arg257Cys
- rs121913611
- ClinGen CA123774
- cosmic curated COSV65245
- ClinVar RCV000015219
- Pathogenic/Likely pathogenic
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Congenit
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.80
- MetaLR 0.82
- MetaSVM 0.76
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. (PMID 10971406)
- Cited in: Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene)… (PMID 11071383)