R75H (p.Arg75His) variant of MPL (Thrombopoietin receptor)
R75H (p.Arg75His) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R75H (p.Arg75His) variant details
- p.Arg75His
- rs148276667
- ClinGen CA806618
- NCI-TCGA Cosmic COSV6524
- cosmic curated COSV65247
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.49
- MetaLR 0.63
- MetaSVM -0.15
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available