E46Q (p.Glu46Gln) variant of MPL (Thrombopoietin receptor)
E46Q (p.Glu46Gln) 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 0.47 / 1. The record also includes experimental measurements and structural context.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- rs1398260614
- ClinGen CA339972740
- ClinVar RCV003788902
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.32
- MetaLR 0.48
- MetaSVM -0.05
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.27
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- TpoR activation by low dosage of lusutrombopag: score 0.658