E61K (p.Glu61Lys) variant of JAK2 (Tyrosine-protein kinase JAK2)
E61K (p.Glu61Lys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs1439413818
- ClinGen CA372819889
- ClinVar RCV002308886
- TOPMed rs1439413818
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.08
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.06
- CADD 21.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available