D23N (p.Asp23Asn) variant of AIRE (Autoimmune regulator)
D23N (p.Asp23Asn) 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 0.67 / 1. The record also includes population frequency data and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs975525470
- ClinGen CA321787734
- ClinVar RCV002006973
- TOPMed rs975525470
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.58
- MetaLR 0.78
- MetaSVM 0.48
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available