E51E (p.Glu51Glu) variant of JAK2 (Tyrosine-protein kinase JAK2)
E51E (p.Glu51Glu) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E51E (p.Glu51Glu) variant details
- p.Glu51Glu
- rs767076792
- gnomAD 9-5022140-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0851
- CADD 0.63
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available