S43W (p.Ser43Trp) variant of JAK1 (Tyrosine-protein kinase JAK1)
S43W (p.Ser43Trp) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S43W (p.Ser43Trp) variant details
- p.Ser43Trp
- ExAC rs758557529
- TOPMed rs758557529
- gnomAD rs758557529
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available