D4N (p.Asp4Asn) variant of AIRE (Autoimmune regulator)
D4N (p.Asp4Asn) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D4N (p.Asp4Asn) variant details
- p.Asp4Asn
- rs1014398252
- ClinGen CA321787729
- ClinVar RCV000801078
- TOPMed rs1014398252
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.43
- MetaLR 0.84
- MetaSVM 0.81
- CADD 23.20
- PolyPhen-2 0.95
- SIFT 0.06
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00021)
- Structural context available