A32S (p.Ala32Ser) variant of FOXP3 (Forkhead box protein P3)
A32S (p.Ala32Ser) 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 0.19 / 1. The record also includes population frequency data and published literature.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- rs2519196906
- ClinGen CA412954204
- ClinVar RCV003625193
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.29
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: IPEX Syndrome. (PMID 20301297)