E83K (p.Glu83Lys) variant of JAK1 (Tyrosine-protein kinase JAK1)
E83K (p.Glu83Lys) 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 JAK1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- rs770735783
- ClinGen CA893205
- ClinVar RCV001867775
- ClinVar RCV003416519
- Uncertain significance
- JAK1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.60
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.25
- ClinVar: Uncertain significance (JAK1-related disorder; 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