R15L (p.Arg15Leu) variant of AIRE (Autoimmune regulator)
R15L (p.Arg15Leu) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- rs179363876
- ClinGen CA219207
- ClinVar RCV000059060
- ClinVar RCV001378939
- Pathogenic/Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- MetaLR 0.87
- MetaSVM 0.91
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Cited in: APECED mutations in the autoimmune regulator (AIRE) gene. (PMID 11524731)
- Cited in: APECED-causing mutations in AIRE reveal the functional domains of the protein. (PMID 14974083)