E61Q (p.Glu61Gln) variant of JAK2 (Tyrosine-protein kinase JAK2)
E61Q (p.Glu61Gln) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E61Q (p.Glu61Gln) variant details
- p.Glu61Gln
- gnomAD 9-5022168-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.07
- AlphaMissense 0.10
- MetaLR 0.08
- MetaSVM -1.07
- CADD 19.20
- PolyPhen-2 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available