E59Q (p.Glu59Gln) variant of JAK1 (Tyrosine-protein kinase JAK1)
E59Q (p.Glu59Gln) in JAK1 (Tyrosine-protein kinase JAK1) 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 0.50 / 1. The record also includes population frequency data and structural context.
E59Q (p.Glu59Gln) variant details
- p.Glu59Gln
- rs889418968
- ClinGen CA24323400
- ClinVar RCV003548395
- TOPMed rs889418968
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.33
- CADD 23.50
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available