C169R (p.Cys169Arg) variant of FOXP3 (Forkhead box protein P3)
C169R (p.Cys169Arg) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
C169R (p.Cys169Arg) variant details
- p.Cys169Arg
- rs1237648287
- ClinGen CA412952450
- ClinVar RCV001996555
- TOPMed rs1237648287
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.72
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)