C40C (p.Cys40Cys) variant of MPL (Thrombopoietin receptor)
C40C (p.Cys40Cys) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C40C (p.Cys40Cys) variant details
- p.Cys40Cys
- rs747864027
- gnomAD 1-43338139-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 10.10
- Population evidence available
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.11
- Literature evidence available