Y63H (p.Tyr63His) variant of MPL (Thrombopoietin receptor)
Y63H (p.Tyr63His) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Inborn g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y63H (p.Tyr63His) variant details
- p.Tyr63His
- ExAC rs766172846
- TOPMed rs766172846
- gnomAD rs766172846
- Uncertain significance
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Inborn g
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.63
- MetaLR 0.76
- MetaSVM 0.74
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.33
- ClinVar: Uncertain significance (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available