L158Q (p.Leu158Gln) variant of FOXP3 (Forkhead box protein P3)
L158Q (p.Leu158Gln) 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 0.58 / 1. The record also includes population frequency data and published literature.
L158Q (p.Leu158Gln) variant details
- p.Leu158Gln
- rs1557116475
- ClinGen CA412952583
- ClinVar RCV002640248
- TOPMed rs1557116475
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.60
- CADD 24.00
- PolyPhen-2 0.58
- 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 Latino/Admixed American population (allele frequency 2.8e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)