L167M (p.Leu167Met) variant of FOXP3 (Forkhead box protein P3)
L167M (p.Leu167Met) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The record also includes published literature.
L167M (p.Leu167Met) variant details
- p.Leu167Met
- rs2519194338
- ClinGen CA412952473
- ClinVar RCV003047816
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: IPEX Syndrome. (PMID 20301297)