E65K (p.Glu65Lys) variant of JAK2 (Tyrosine-protein kinase JAK2)
E65K (p.Glu65Lys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- gnomAD 9-5022180-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.46
- AlphaMissense 0.87
- MetaLR 0.33
- MetaSVM -0.37
- CADD 28.90
- PolyPhen-2 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available