R102H (p.Arg102His) variant of MPL (Thrombopoietin receptor)
R102H (p.Arg102His) 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; Essential thrombocythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R102H (p.Arg102His) variant details
- p.Arg102His
- rs28928907
- ClinGen CA339973584
- cosmic curated COSV10099
- ClinVar RCV001270587
- Likely pathogenic
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.33
- MetaLR 0.42
- MetaSVM -0.32
- CADD 25.50
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Pathogenic (in CAMT1)
- UniProt: Pathogenic (in CAMT1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available