C232G (p.Cys232Gly) variant of FOXP3 (Forkhead box protein P3)
C232G (p.Cys232Gly) 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 0.74 / 1. The record also includes published literature.
C232G (p.Cys232Gly) variant details
- p.Cys232Gly
- rs1569529715
- ClinGen CA412951147
- ClinVar RCV000701902
- Ensembl rs1569529715
- Pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.60
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.27
- ClinVar: Pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: IPEX Syndrome. (PMID 20301297)