S67L (p.Ser67Leu) variant of FOXP3 (Forkhead box protein P3)
S67L (p.Ser67Leu) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
S67L (p.Ser67Leu) variant details
- p.Ser67Leu
- rs1382549860
- ClinGen CA412953779
- ClinVar RCV002074601
- TOPMed rs1382549860
- Conflicting interpretations
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.46
- CADD 23.50
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Cited in: IPEX Syndrome. (PMID 20301297)