P136R (p.Pro136Arg) variant of MPL (Thrombopoietin receptor)
P136R (p.Pro136Arg) 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 1; Primary myelofibrosis; Thrombocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P136R (p.Pro136Arg) variant details
- p.Pro136Arg
- rs764904424
- ClinGen CA339974309
- ClinVar RCV003154848
- ClinVar RCV004763608
- Likely pathogenic
- Congenital amegakaryocytic thrombocytopenia 1; Primary myelofibrosis; Thrombocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.80
- MetaLR 0.91
- MetaSVM 1.02
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital amegakaryocytic thrombocytopenia 1; Primary myelofibr)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Population evidence available
- Structural context available