C50C (p.Cys50Cys) variant of MPL (Thrombopoietin receptor)
C50C (p.Cys50Cys) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C50C (p.Cys50Cys) variant details
- p.Cys50Cys
- rs1647006757
- gnomAD 1-43338169-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available