D47D (p.Asp47Asp) variant of MPL (Thrombopoietin receptor)
D47D (p.Asp47Asp) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D47D (p.Asp47Asp) variant details
- p.Asp47Asp
- rs1647006717
- gnomAD 1-43338160-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 8.46
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.34
- Literature evidence available