F45C (p.Phe45Cys) variant of MPL (Thrombopoietin receptor)
F45C (p.Phe45Cys) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F45C (p.Phe45Cys) variant details
- p.Phe45Cys
- gnomAD 1-43338153-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.61
- MetaLR 0.44
- MetaSVM -0.09
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- TpoR activation by low dosage of eltrombopag: score 0.7
- Literature evidence available