R347H (p.Arg347His) variant of FOXP3 (Forkhead box protein P3)
R347H (p.Arg347His) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely risk allele 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R347H (p.Arg347His) variant details
- p.Arg347His
- rs1557115786
- ClinGen CA412950086
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66051
- Pathogenic/Likely risk allele
- not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.90
- CADD 27.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic/Likely risk allele (not provided; Insulin-dependent diabetes mellitus secretory diar)
- EBI: Pathogenic (in IPEX)
- UniProt: Pathogenic (in IPEX)
- Population evidence available
- Structural context available
- Cited in: Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy… (PMID 18951619)
- Cited in: Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells. (PMID 21458306)