R114W (p.Arg114Trp) variant of FOXP3 (Forkhead box protein P3)
R114W (p.Arg114Trp) 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; not specified; Insulin-dependent diabetes mellitus secretory diarr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
R114W (p.Arg114Trp) variant details
- p.Arg114Trp
- rs200554980
- ClinGen CA10411819
- ClinVar RCV000501041
- ClinVar RCV000970540
- Conflicting interpretations
- not provided; not specified; Insulin-dependent diabetes mellitus secretory diarr
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.52
- CADD 26.90
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Insulin-dependent diabetes mellitus)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.008)
- Cited in: IPEX Syndrome. (PMID 20301297)