C77S (p.Cys77Ser) variant of MPL (Thrombopoietin receptor)
C77S (p.Cys77Ser) in MPL (Thrombopoietin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C77S (p.Cys77Ser) variant details
- p.Cys77Ser
- rs1291157023
- gnomAD 1-43338558-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available