L30* (p.Leu30Ter) variant of MPL (Thrombopoietin receptor)
L30* (p.Leu30Ter) in MPL (Thrombopoietin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
L30* (p.Leu30Ter) variant details
- p.Leu30Ter
- rs2545673631
- ClinGen CA339972491
- ClinVar RCV003803808
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.26