W4* (p.Trp4Ter) variant of MPL (Thrombopoietin receptor)
W4* (p.Trp4Ter) in MPL (Thrombopoietin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- rs1647004673
- ClinGen CA339971854
- ClinVar RCV001837551
- Ensembl rs1647004673
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 1.08