K39* (p.Lys39Ter) variant of FAS (P25445)
K39* (p.Lys39Ter) in FAS (P25445) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K39* (p.Lys39Ter) variant details
- p.Lys39Ter
- rs2495021186
- ClinGen CA377507498
- ClinVar RCV003517918
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)