L30S (p.Leu30Ser) variant of MPL (Thrombopoietin receptor)
L30S (p.Leu30Ser) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia. The record also includes experimental measurements and structural context.
L30S (p.Leu30Ser) variant details
- p.Leu30Ser
- rs2545673631
- ClinGen CA339972495
- ClinVar RCV003793243
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.26