F367L (p.Phe367Leu) variant of FOXP3 (Forkhead box protein P3)
F367L (p.Phe367Leu) 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.
F367L (p.Phe367Leu) variant details
- p.Phe367Leu
- Ensembl rs886821043
- 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: Molecular basis of neonatal diabetes in Japanese patients. (PMID 17635943)