P59R (p.Pro59Arg) variant of MPL (Thrombopoietin receptor)
P59R (p.Pro59Arg) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P59R (p.Pro59Arg) variant details
- p.Pro59Arg
- TOPMed rs1036288400
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.32
- MetaLR 0.40
- MetaSVM -0.28
- CADD 22.40
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available