R114Q (p.Arg114Gln) variant of FOXP3 (Forkhead box protein P3)
R114Q (p.Arg114Gln) 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 0.22 / 1. The record also includes population frequency data and published literature.
R114Q (p.Arg114Gln) variant details
- p.Arg114Gln
- rs782303740
- ClinGen CA10411818
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66051
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.19
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.30
- 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 4.1e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)