R15C (p.Arg15Cys) variant of AIRE (Autoimmune regulator)
R15C (p.Arg15Cys) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs179363875
- ClinGen CA219205
- ClinVar RCV000059059
- ClinVar RCV000666777
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.86
- MetaLR 0.87
- MetaSVM 0.91
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Most common in the East Asian population (allele frequency 8.4e-05)
- Structural context available
- Cited in: A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal… (PMID 12625412)
- Cited in: Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune… (PMID 10677297)