Y69H (p.Tyr69His) variant of MPL (Thrombopoietin receptor)
Y69H (p.Tyr69His) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital amegakaryocytic thrombocytopenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y69H (p.Tyr69His) variant details
- p.Tyr69His
- rs1439788842
- ClinGen CA339973116
- ClinVar RCV003154843
- TOPMed rs1439788842
- Pathogenic
- Congenital amegakaryocytic thrombocytopenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.51
- MetaLR 0.42
- MetaSVM -0.15
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Congenital amegakaryocytic thrombocytopenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available