F45S (p.Phe45Ser) variant of MPL (Thrombopoietin receptor)
F45S (p.Phe45Ser) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F45S (p.Phe45Ser) variant details
- p.Phe45Ser
- ESP rs145714475
- ExAC rs145714475
- TOPMed rs145714475
- gnomAD rs145714475
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.55
- MetaLR 0.44
- MetaSVM -0.17
- CADD 26.90
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.7