P81S (p.Pro81Ser) variant of FOXP3 (Forkhead box protein P3)
P81S (p.Pro81Ser) 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 0.52 / 1. The record also includes population frequency data and published literature.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- rs2519195845
- ClinGen CA412953588
- ClinVar RCV003039637
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.44
- CADD 20.20
- PolyPhen-2 0.11
- SIFT 0.06
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.1e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)