Y90C (p.Tyr90Cys) variant of AIRE (Autoimmune regulator)
Y90C (p.Tyr90Cys) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Y90C (p.Tyr90Cys) variant details
- p.Tyr90Cys
- rs179363883
- ClinGen CA219201
- ClinVar RCV000059057
- ClinVar RCV003522923
- Pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.93
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.6e-05)
- Structural context available
- Cited in: APECED mutations in the autoimmune regulator (AIRE) gene. (PMID 11524731)
- Cited in: APECED-causing mutations in AIRE reveal the functional domains of the protein. (PMID 14974083)