F51Y (p.Phe51Tyr) variant of MPL (Thrombopoietin receptor)
F51Y (p.Phe51Tyr) in MPL (Thrombopoietin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F51Y (p.Phe51Tyr) variant details
- p.Phe51Tyr
- gnomAD 1-43338163-C-CACT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 26.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available