R102C (p.Arg102Cys) variant of MPL (Thrombopoietin receptor)
R102C (p.Arg102Cys) 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 Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Congenit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R102C (p.Arg102Cys) variant details
- p.Arg102Cys
- rs763568293
- ClinGen CA806632
- NCI-TCGA Cosmic COSV6524
- cosmic curated COSV65244
- Pathogenic/Likely pathogenic
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Congenit
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.53
- MetaLR 0.46
- MetaSVM -0.10
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- 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)