R43* (p.Arg43Ter) variant of MPL (Thrombopoietin receptor)
R43* (p.Arg43Ter) in MPL (Thrombopoietin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
R43* (p.Arg43Ter) variant details
- p.Arg43Ter
- rs148434485
- ClinGen CA806582
- cosmic curated COSV65245
- ClinVar RCV000411190
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.575