R257H (p.Arg257His) variant of MPL (Thrombopoietin receptor)
R257H (p.Arg257His) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R257H (p.Arg257His) variant details
- p.Arg257His
- rs993195285
- NCI-TCGA Cosmic COSV6524
- cosmic curated COSV65244
- TOPMed rs993195285
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.81
- MetaLR 0.82
- MetaSVM 0.76
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- UniProt: Uncertain significance (in CAMT1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available