S125N (p.Ser125Asn) variant of FOXP3 (Forkhead box protein P3)
S125N (p.Ser125Asn) 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 0.49 / 1. The record also includes published literature.
S125N (p.Ser125Asn) variant details
- p.Ser125Asn
- rs2066081601
- ClinGen CA412953034
- ClinVar RCV002922247
- Ensembl rs2066081601
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.10
- MetaLR 0.74
- MetaSVM 0.07
- PolyPhen-2 0.00
- SIFT 0.15
- EVE 0.14
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: IPEX Syndrome. (PMID 20301297)