R85W (p.Arg85Trp) variant of FOXP3 (Forkhead box protein P3)
R85W (p.Arg85Trp) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
R85W (p.Arg85Trp) variant details
- p.Arg85Trp
- rs376715533
- ClinGen CA10411838
- cosmic curated COSV10087
- ClinVar RCV001316091
- Conflicting interpretations
- not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Insulin-dependent diabetes mellitus secretory diar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)