S20P (p.Ser20Pro) variant of JAK3 (Tyrosine-protein kinase JAK3)
S20P (p.Ser20Pro) 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.
S20P (p.Ser20Pro) variant details
- p.Ser20Pro
- cosmic curated COSV71686
- 1000Genomes rs199773433
- ExAC rs199773433
- TOPMed rs199773433
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available