P24S (p.Pro24Ser) variant of FOXP3 (Forkhead box protein P3)
P24S (p.Pro24Ser) 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 0.32 / 1. The record also includes population frequency data and published literature.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- rs1557116742
- ClinGen CA412954264
- cosmic curated COSV66051
- ClinVar RCV001703079
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.17
- CADD 9.52
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)