C169Y (p.Cys169Tyr) variant of FOXP3 (Forkhead box protein P3)
C169Y (p.Cys169Tyr) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
C169Y (p.Cys169Tyr) variant details
- p.Cys169Tyr
- rs1284218417
- ClinGen CA412952446
- ClinVar RCV001049743
- TOPMed rs1284218417
- Likely benign
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.56
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Likely benign (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Cited in: IPEX Syndrome. (PMID 20301297)