E33D (p.Glu33Asp) variant of JAK1 (Tyrosine-protein kinase JAK1)
E33D (p.Glu33Asp) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- ESP rs369162104
- ExAC rs369162104
- TOPMed rs369162104
- gnomAD rs369162104
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available