P165L (p.Pro165Leu) variant of FOXP3 (Forkhead box protein P3)
P165L (p.Pro165Leu) 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 0.57 / 1. The record also includes population frequency data and published literature.
P165L (p.Pro165Leu) variant details
- p.Pro165Leu
- rs1279942582
- ClinGen CA412952487
- ClinVar RCV001903367
- TOPMed rs1279942582
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)