V77L (p.Val77Leu) variant of FOXP3 (Forkhead box protein P3)
V77L (p.Val77Leu) 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.
V77L (p.Val77Leu) variant details
- p.Val77Leu
- rs2519195871
- ClinGen CA412953636
- ClinVar RCV003511575
- 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)