A5S (p.Ala5Ser) variant of MPL (Thrombopoietin receptor)
A5S (p.Ala5Ser) in MPL (Thrombopoietin receptor) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- TOPMed rs1356606287
- gnomAD rs1356606287
- Missense
- MetaLR 0.48
- MetaSVM -0.53
- SIFT 0.04
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.328