R71Q (p.Arg71Gln) variant of MPL (Thrombopoietin receptor)
R71Q (p.Arg71Gln) 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; Primary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R71Q (p.Arg71Gln) variant details
- p.Arg71Gln
- rs368753117
- ClinGen CA806595
- ClinVar RCV001834759
- ClinVar RCV002490971
- Uncertain significance
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Primary
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.91
- CADD 29.70
- PolyPhen-2 0.12
- SIFT 0.29
- ClinVar: Uncertain significance (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available