P326L (p.Pro326Leu) variant of AIRE (Autoimmune regulator)
P326L (p.Pro326Leu) 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 Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P326L (p.Pro326Leu) variant details
- p.Pro326Leu
- rs179363885
- ClinGen CA219217
- ClinVar RCV000059066
- ClinVar RCV001061201
- Pathogenic/Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.69
- AlphaMissense 0.64
- MetaLR 0.73
- MetaSVM 0.60
- CADD 23.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune… (PMID 11275943)
- Cited in: Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator. (PMID 19446523)