I363V (p.Ile363Val) variant of FOXP3 (Forkhead box protein P3)
I363V (p.Ile363Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
I363V (p.Ile363Val) variant details
- p.Ile363Val
- rs2147944391
- ClinGen CA412948891
- ClinVar RCV002035836
- UniProt VAR 023569
- Pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.85
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Pathogenic (in IPEX)
- UniProt: Pathogenic (in IPEX)
- Structural context available
- Cited in: Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked… (PMID 11768393)
- Cited in: JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. (PMID 11120765)