R85Q (p.Arg85Gln) variant of FOXP3 (Forkhead box protein P3)
R85Q (p.Arg85Gln) 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 0.26 / 1. The record also includes population frequency data and published literature.
R85Q (p.Arg85Gln) variant details
- p.Arg85Gln
- rs782628979
- ClinGen CA10411837
- ClinVar RCV001371485
- ExAC rs782628979
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.20
- CADD 18.20
- PolyPhen-2 0.04
- SIFT 0.26
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00013)
- Cited in: IPEX Syndrome. (PMID 20301297)