L28P (p.Leu28Pro) variant of AIRE (Autoimmune regulator)
L28P (p.Leu28Pro) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- rs179363878
- ClinGen CA219211
- ClinVar RCV000059063
- ClinVar RCV000810303
- Pathogenic/Likely pathogenic
- not provided; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.88
- MetaLR 0.89
- MetaSVM 0.94
- CADD 26.50
- 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 Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional… (PMID 11274163)
- Cited in: APECED mutations in the autoimmune regulator (AIRE) gene. (PMID 11524731)