Y69N (p.Tyr69Asn) variant of MPL (Thrombopoietin receptor)
Y69N (p.Tyr69Asn) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
Y69N (p.Tyr69Asn) variant details
- p.Tyr69Asn
- TOPMed rs1439788842
- Pathogenic
- Missense
- MetaLR 0.37
- MetaSVM -0.45
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available