G83E (p.Gly83Glu) variant of FOXP3 (Forkhead box protein P3)
G83E (p.Gly83Glu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
G83E (p.Gly83Glu) variant details
- p.Gly83Glu
- rs1442990167
- ClinGen CA412953554
- ClinVar RCV003831536
- TOPMed rs1442990167
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.39
- CADD 21.10
- PolyPhen-2 0.19
- SIFT 0.02
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: IPEX Syndrome. (PMID 20301297)