P539L (p.Pro539Leu) variant of AIRE (Autoimmune regulator)
P539L (p.Pro539Leu) 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 0.79 / 1. The record also includes population frequency data and published literature.
P539L (p.Pro539Leu) variant details
- p.Pro539Leu
- rs179363889
- ClinGen CA219194
- ClinVar RCV000059052
- ClinVar RCV000409203
- Pathogenic/Likely pathogenic
- not provided; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.82
- MetaLR 0.72
- MetaSVM 0.57
- CADD 24.80
- PolyPhen-2 1.00
- 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 South Asian population (allele frequency 0.00021)
- Cited in: Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy… (PMID 11836330)
- Cited in: Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune… (PMID 10677297)