E65Q (p.Glu65Gln) variant of JAK2 (Tyrosine-protein kinase JAK2)
E65Q (p.Glu65Gln) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E65Q (p.Glu65Gln) variant details
- p.Glu65Gln
- ExAC rs773146013
- TOPMed rs773146013
- gnomAD rs773146013
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.28
- AlphaMissense 0.75
- MetaLR 0.33
- MetaSVM -0.36
- CADD 26.60
- PolyPhen-2 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available