R39Q (p.Arg39Gln) variant of FOXP3 (Forkhead box protein P3)
R39Q (p.Arg39Gln) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- rs782639786
- ClinGen CA10411859
- ClinVar RCV001515914
- ExAC rs782639786
- Benign
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.16
- CADD 14.20
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Benign (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 8e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)