E46K (p.Glu46Lys) variant of MPL (Thrombopoietin receptor)
E46K (p.Glu46Lys) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs1398260614
- ClinGen CA339972739
- ClinVar RCV002962150
- TOPMed rs1398260614
- Uncertain significance
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.54
- AlphaMissense 0.32
- MetaLR 0.48
- MetaSVM -0.05
- CADD 29.80
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- TpoR activation by low dosage of lusutrombopag: score 0.658