L71V (p.Leu71Val) variant of FOXP3 (Forkhead box protein P3)
L71V (p.Leu71Val) 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.
L71V (p.Leu71Val) variant details
- p.Leu71Val
- rs1557116627
- ClinGen CA412953701
- ClinVar RCV003625181
- 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)