S505N (p.Ser505Asn) variant of MPL (Thrombopoietin receptor)
S505N (p.Ser505Asn) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
S505N (p.Ser505Asn) variant details
- p.Ser505Asn
- rs121913614
- ClinGen CA123790
- cosmic curated COSV65244
- ClinVar RCV000015226
- Pathogenic
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.59
- MetaLR 0.48
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 0.12
- EVE 0.18
- ClinVar: Pathogenic (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Pathogenic (in THCYT2)
- UniProt: Pathogenic (in THCYT2)
- Structural context available
- Cited in: Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which… (PMID 14764528)
- Cited in: The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous… (PMID 19483125)