R426P (p.Arg426Pro) variant of MPL (Thrombopoietin receptor)
R426P (p.Arg426Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
R426P (p.Arg426Pro) variant details
- p.Arg426Pro
- rs200454070
- ClinGen CA339983477
- ClinVar RCV003154847
- ESP rs200454070
- Pathogenic
- Congenital amegakaryocytic thrombocytopenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.21
- MetaLR 0.34
- MetaSVM -0.84
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.27
- ClinVar: Pathogenic (Congenital amegakaryocytic thrombocytopenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available