T16M (p.Thr16Met) variant of AIRE (Autoimmune regulator)
T16M (p.Thr16Met) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T16M (p.Thr16Met) variant details
- p.Thr16Met
- rs179363877
- ClinGen CA219209
- ClinVar RCV000059061
- ClinVar RCV001037856
- Pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.87
- MetaLR 0.87
- MetaSVM 0.90
- CADD 24.70
- 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 South Asian population (allele frequency 1.3e-05)
- Structural context available
- Cited in: APECED mutations in the autoimmune regulator (AIRE) gene. (PMID 11524731)
- Cited in: Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. (PMID 11524733)