M370I (p.Met370Ile) variant of FOXP3 (Forkhead box protein P3)
M370I (p.Met370Ile) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The record also includes published literature and structural context.
M370I (p.Met370Ile) variant details
- p.Met370Ile
- rs2519186384
- ClinGen CA412948777
- ClinVar RCV003461593
- Pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- ClinVar: Pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: IPEX Syndrome. (PMID 20301297)