W435C (p.Trp435Cys) variant of MPL (Thrombopoietin receptor)
W435C (p.Trp435Cys) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Essential thrombocythemia; Congenital amegakaryocytic thrombocytop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W435C (p.Trp435Cys) variant details
- p.Trp435Cys
- rs1006158872
- ClinGen CA21610858
- ClinVar RCV002913014
- ClinVar RCV003491161
- Likely pathogenic
- not provided; Essential thrombocythemia; Congenital amegakaryocytic thrombocytop
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.84
- MetaLR 0.76
- MetaSVM 0.62
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Essential thrombocythemia; Congenital amegakaryocy)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)