L254P (p.Leu254Pro) variant of MPL (Thrombopoietin receptor)
L254P (p.Leu254Pro) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital amegakaryocytic thrombocytopenia. The record also includes structural context.
L254P (p.Leu254Pro) variant details
- p.Leu254Pro
- rs2545676752
- ClinGen CA339976699
- ClinVar RCV003154846
- Likely pathogenic
- Congenital amegakaryocytic thrombocytopenia
- Missense
- ClinVar: Likely pathogenic (Congenital amegakaryocytic thrombocytopenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available