P63L (p.Pro63Leu) variant of FOXP3 (Forkhead box protein P3)
P63L (p.Pro63Leu) 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 0.47 / 1. The record also includes population frequency data and published literature.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- rs1557116691
- ClinGen CA412953831
- ClinVar RCV002631580
- TOPMed rs1557116691
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)