R75P (p.Arg75Pro) variant of MPL (Thrombopoietin receptor)
R75P (p.Arg75Pro) 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 0.66 / 1. The record also includes population frequency data and structural context.
R75P (p.Arg75Pro) variant details
- p.Arg75Pro
- ESP rs148276667
- ExAC rs148276667
- TOPMed rs148276667
- gnomAD rs148276667
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.62
- MetaLR 0.63
- MetaSVM -0.06
- CADD 27.50
- PolyPhen-2 0.94
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available