D82E (p.Asp82Glu) variant of JAK1 (Tyrosine-protein kinase JAK1)
D82E (p.Asp82Glu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D82E (p.Asp82Glu) variant details
- p.Asp82Glu
- ESP rs374624103
- ExAC rs374624103
- TOPMed rs374624103
- gnomAD rs374624103
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0592
- REVEL 0.02
- CADD 8.17
- PolyPhen-2 0.02
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available