D47T (p.Asp47Thr) variant of MPL (Thrombopoietin receptor)
D47T (p.Asp47Thr) in MPL (Thrombopoietin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D47T (p.Asp47Thr) variant details
- p.Asp47Thr
- rs1447038536
- gnomAD 1-43338156-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 26.90
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.34
- Literature evidence available