N3K (p.Asn3Lys) variant of FOXP3 (Forkhead box protein P3)
N3K (p.Asn3Lys) 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 not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- rs782730117
- ExAC rs782730117
- TOPMed rs782730117
- gnomAD rs782730117
- Uncertain significance
- not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.45
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Insulin-dependent diabetes mellitus secretory diar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Cited in: IPEX Syndrome. (PMID 20301297)