E26K (p.Glu26Lys) variant of JAK1 (Tyrosine-protein kinase JAK1)
E26K (p.Glu26Lys) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- Ensembl rs1644805589
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.26
- CADD 22.20
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available