T13S (p.Thr13Ser) variant of FAS (P25445)
T13S (p.Thr13Ser) in FAS (P25445) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
T13S (p.Thr13Ser) variant details
- p.Thr13Ser
- rs1842954041
- ClinGen CA916080417
- ClinVar RCV001055690
- NCI-TCGA TCGA novel
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autoimmune Lymphoproliferative Syndrome. (PMID 20301287)