S181I (p.Ser181Ile) variant of FOXP3 (Forkhead box protein P3)
S181I (p.Ser181Ile) 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 0.28 / 1. The record also includes published literature.
S181I (p.Ser181Ile) variant details
- p.Ser181Ile
- rs1602686006
- ClinGen CA412952332
- ClinVar RCV000805851
- Ensembl rs1602686006
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.19
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: IPEX Syndrome. (PMID 20301297)