G83R (p.Gly83Arg) variant of FOXP3 (Forkhead box protein P3)
G83R (p.Gly83Arg) 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 0.30 / 1. The record also includes population frequency data and published literature.
G83R (p.Gly83Arg) variant details
- p.Gly83Arg
- rs868911396
- ClinGen CA412953562
- ClinVar RCV001879506
- TOPMed rs868911396
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)