E61D (p.Glu61Asp) variant of JAK2 (Tyrosine-protein kinase JAK2)
E61D (p.Glu61Asp) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E61D (p.Glu61Asp) variant details
- p.Glu61Asp
- gnomAD 9-5022170-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.08
- CADD 11.70
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available