K18E (p.Lys18Glu) variant of JAK1 (Tyrosine-protein kinase JAK1)
K18E (p.Lys18Glu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- gnomAD rs1192481398
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.32
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available