R397Q (p.Arg397Gln) variant of FOXP3 (Forkhead box protein P3)
R397Q (p.Arg397Gln) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R397Q (p.Arg397Gln) variant details
- p.Arg397Gln
- rs1057520529
- ClinGen CA16608510
- cosmic curated COSV66051
- ClinVar RCV000420714
- Pathogenic/Likely pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.96
- CADD 27.90
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Pathogenic (in IPEX)
- UniProt: Pathogenic (in IPEX)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: IPEX Syndrome. (PMID 20301297)