A56T (p.Ala56Thr) variant of FOXP3 (Forkhead box protein P3)
A56T (p.Ala56Thr) 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.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs2519196732
- ClinGen CA412953923
- ClinVar RCV003865045
- 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)