R39* (p.Arg39Ter) variant of LCK (Tyrosine-protein kinase Lck)
R39* (p.Arg39Ter) in LCK (Tyrosine-protein kinase Lck) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
R39* (p.Arg39Ter) variant details
- p.Arg39Ter
- rs2521638529
- ClinGen CA339635994
- ClinVar RCV002903252
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.468