S42F (p.Ser42Phe) variant of JAK3 (Tyrosine-protein kinase JAK3)
S42F (p.Ser42Phe) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- Ensembl rs2094246939
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available