P151S (p.Pro151Ser) variant of FOXP3 (Forkhead box protein P3)
P151S (p.Pro151Ser) 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 0.44 / 1. The record also includes population frequency data and published literature.
P151S (p.Pro151Ser) variant details
- p.Pro151Ser
- rs1557116520
- ClinGen CA412952722
- ClinVar RCV001217233
- TOPMed rs1557116520
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.39
- CADD 23.20
- PolyPhen-2 0.25
- SIFT 0.02
- 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)