C77Y (p.Cys77Tyr) variant of MPL (Thrombopoietin receptor)
C77Y (p.Cys77Tyr) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C77Y (p.Cys77Tyr) variant details
- p.Cys77Tyr
- gnomAD 1-43338559-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.90
- MetaLR 0.92
- MetaSVM 1.03
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available