P136L (p.Pro136Leu) variant of MPL (Thrombopoietin receptor)
P136L (p.Pro136Leu) 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 Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P136L (p.Pro136Leu) variant details
- p.Pro136Leu
- rs764904424
- ClinGen CA339974311
- ClinVar RCV003815415
- ClinVar RCV005433471
- Pathogenic/Likely pathogenic
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.84
- MetaLR 0.91
- MetaSVM 1.02
- CADD 24.10
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Cited in: MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts… (PMID 16470591)
- Cited in: The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin… (PMID 25538044)