N3I (p.Asn3Ile) variant of FOXP3 (Forkhead box protein P3)
N3I (p.Asn3Ile) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar 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.
N3I (p.Asn3Ile) variant details
- p.Asn3Ile
- Ensembl rs2066089534
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.65
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)