C50Y (p.Cys50Tyr) variant of MPL (Thrombopoietin receptor)
C50Y (p.Cys50Tyr) 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.
C50Y (p.Cys50Tyr) variant details
- p.Cys50Tyr
- gnomAD 1-43338168-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available