E66Q (p.Glu66Gln) variant of JAK2 (Tyrosine-protein kinase JAK2)
E66Q (p.Glu66Gln) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E66Q (p.Glu66Gln) variant details
- p.Glu66Gln
- gnomAD rs1183227511
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.38
- AlphaMissense 0.17
- MetaLR 0.39
- MetaSVM -0.50
- CADD 23.80
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available