R71L (p.Arg71Leu) variant of MPL (Thrombopoietin receptor)
R71L (p.Arg71Leu) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R71L (p.Arg71Leu) variant details
- p.Arg71Leu
- 1000Genomes rs368753117
- ESP rs368753117
- ExAC rs368753117
- TOPMed rs368753117
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.87
- CADD 32.00
- PolyPhen-2 0.16
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available