A52E (p.Ala52Glu) variant of JAK2 (Tyrosine-protein kinase JAK2)
A52E (p.Ala52Glu) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The record also includes variant effect predictions and structural context.
A52E (p.Ala52Glu) variant details
- p.Ala52Glu
- TOPMed rs1822472204
- gnomAD rs1822472204
- Missense
- MetaLR 0.08
- MetaSVM -1.10
- SIFT 0.67
- Structural context available