W81C (p.Trp81Cys) variant of JAK3 (Tyrosine-protein kinase JAK3)
W81C (p.Trp81Cys) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W81C (p.Trp81Cys) variant details
- p.Trp81Cys
- rs2094245783
- ClinGen CA2326057806
- ClinVar RCV003510188
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available