E61E (p.Glu61Glu) variant of JAK2 (Tyrosine-protein kinase JAK2)
E61E (p.Glu61Glu) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E61E (p.Glu61Glu) variant details
- p.Glu61Glu
- rs765467595
- gnomAD 9-5022170-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 5.93
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available