R397W (p.Arg397Trp) variant of FOXP3 (Forkhead box protein P3)
R397W (p.Arg397Trp) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Hydrops fetalis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R397W (p.Arg397Trp) variant details
- p.Arg397Trp
- rs28935477
- ClinGen CA255855
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66050
- Pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Hydrops fetalis
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.95
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Pathogenic (in IPEX)
- UniProt: Pathogenic (in IPEX)
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. (PMID 11137992)
- Cited in: Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal… (PMID 11295725)