C54W (p.Cys54Trp) variant of JAK3 (Tyrosine-protein kinase JAK3)
C54W (p.Cys54Trp) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
C54W (p.Cys54Trp) variant details
- p.Cys54Trp
- TOPMed rs200626608
- gnomAD rs200626608
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available