M1I (p.Met1Ile) variant of FOXP3 (Forkhead box protein P3)
M1I (p.Met1Ile) 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 0.96 / 1. The record also includes published literature.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs122467174
- ClinGen CA255872
- ClinVar RCV000012171
- Pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- MetaLR 0.95
- MetaSVM 1.16
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Defective regulatory and effector T cell functions in patients with FOXP3 mutations. (PMID 16741580)
- Cited in: IPEX Syndrome. (PMID 20301297)