L93R (p.Leu93Arg) variant of AIRE (Autoimmune regulator)
L93R (p.Leu93Arg) 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 0.88 / 1. The record also includes published literature and structural context.
L93R (p.Leu93Arg) variant details
- p.Leu93Arg
- rs179363884
- ClinGen CA219203
- ClinVar RCV000059058
- ClinVar RCV002514297
- Pathogenic/Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- 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)