C50F (p.Cys50Phe) variant of MPL (Thrombopoietin receptor)
C50F (p.Cys50Phe) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C50F (p.Cys50Phe) variant details
- p.Cys50Phe
- gnomAD 1-43338168-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.08
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available