F45L (p.Phe45Leu) variant of MPL (Thrombopoietin receptor)
F45L (p.Phe45Leu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F45L (p.Phe45Leu) variant details
- p.Phe45Leu
- ExAC rs775885799
- TOPMed rs775885799
- gnomAD rs775885799
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.25
- MetaLR 0.29
- MetaSVM -0.65
- CADD 22.80
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.7