R92Q (p.Arg92Gln) variant of AIRE (Autoimmune regulator)
R92Q (p.Arg92Gln) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R92Q (p.Arg92Gln) variant details
- p.Arg92Gln
- rs1288735234
- ClinGen CA410423495
- ClinVar RCV002037238
- TOPMed rs1288735234
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.68
- MetaLR 0.83
- MetaSVM 0.75
- CADD 26.70
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available