C311Y (p.Cys311Tyr) variant of AIRE (Autoimmune regulator)
C311Y (p.Cys311Tyr) 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 0.91 / 1. The record also includes published literature and structural context.
C311Y (p.Cys311Tyr) variant details
- p.Cys311Tyr
- rs386833674
- ClinGen CA144209
- ClinVar RCV000049634
- UniProt VAR 013723
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- 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)