L37* (p.Leu37Ter) variant of FAS (P25445)
L37* (p.Leu37Ter) 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.
L37* (p.Leu37Ter) variant details
- p.Leu37Ter
- rs1564686301
- ClinGen CA377507479
- ClinVar RCV000704333
- Ensembl rs1564686301
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)