S184L (p.Ser184Leu) variant of FOXP3 (Forkhead box protein P3)
S184L (p.Ser184Leu) 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 0.19 / 1. The record also includes population frequency data and published literature.
S184L (p.Ser184Leu) variant details
- p.Ser184Leu
- rs140222626
- ClinGen CA10411779
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66051
- Conflicting interpretations
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.16
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.037)
- Cited in: IPEX Syndrome. (PMID 20301297)