Y85C (p.Tyr85Cys) variant of AIRE (Autoimmune regulator)
Y85C (p.Tyr85Cys) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Y85C (p.Tyr85Cys) variant details
- p.Tyr85Cys
- rs179363882
- ClinGen CA201537
- ClinVar RCV000059056
- ClinVar RCV000175592
- Pathogenic/Likely pathogenic
- not provided; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.78
- MetaLR 0.85
- MetaSVM 0.66
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune… (PMID 10677297)
- Cited in: APECED mutations in the autoimmune regulator (AIRE) gene. (PMID 11524731)