S175R (p.Ser175Arg) variant of FOXP3 (Forkhead box protein P3)
S175R (p.Ser175Arg) 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.
S175R (p.Ser175Arg) variant details
- p.Ser175Arg
- TOPMed rs1441216420
- gnomAD rs1441216420
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Likely benign
- UniProt: Likely benign