L29P (p.Leu29Pro) variant of AIRE (Autoimmune regulator)
L29P (p.Leu29Pro) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- rs179363879
- ClinGen CA219213
- ClinVar RCV000059064
- ClinVar RCV003329239
- Pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.88
- MetaLR 0.91
- MetaSVM 0.98
- CADD 24.90
- 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 Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1… (PMID 12173302)
- Cited in: APECED-causing mutations in AIRE reveal the functional domains of the protein. (PMID 14974083)