R71W (p.Arg71Trp) variant of MPL (Thrombopoietin receptor)
R71W (p.Arg71Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R71W (p.Arg71Trp) variant details
- p.Arg71Trp
- cosmic curated COSV65244
- ExAC rs780738649
- TOPMed rs780738649
- gnomAD rs780738649
- Uncertain significance
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.12
- AlphaMissense 0.15
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available