S60G (p.Ser60Gly) variant of MPL (Thrombopoietin receptor)
S60G (p.Ser60Gly) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S60G (p.Ser60Gly) variant details
- p.Ser60Gly
- TOPMed rs940757489
- gnomAD rs940757489
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.94
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available