P106L (p.Pro106Leu) variant of MPL (Thrombopoietin receptor)
P106L (p.Pro106Leu) 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 1; Primary myelofibrosis; Thrombocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P106L (p.Pro106Leu) variant details
- p.Pro106Leu
- rs750046020
- ClinGen CA806636
- NCI-TCGA Cosmic COSV6524
- cosmic curated COSV65246
- Pathogenic/Likely pathogenic
- Congenital amegakaryocytic thrombocytopenia 1; Primary myelofibrosis; Thrombocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.54
- MetaLR 0.38
- MetaSVM -0.66
- CADD 9.07
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Congenital amegakaryocytic thrombocytopenia 1; Primary myelofibr)
- EBI: Pathogenic (in THCYT2)
- UniProt: Pathogenic (in THCYT2)
- Most common in the Middle Eastern population (allele frequency 0.0047)
- Structural context available
- Cited in: The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin… (PMID 25538044)
- Cited in: Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which… (PMID 14764528)