L93Q (p.Leu93Gln) variant of AIRE (Autoimmune regulator)
L93Q (p.Leu93Gln) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Polyglandular autoimmune syndrome, type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L93Q (p.Leu93Gln) variant details
- p.Leu93Gln
- rs179363884
- ClinGen CA410423498
- ClinVar RCV003228342
- ClinVar RCV003779824
- Conflicting interpretations
- Polyglandular autoimmune syndrome, type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.86
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Polyglandular autoimmune syndrome, type 1; not provided)
- EBI: Likely pathogenic (in APS1)
- UniProt: Likely pathogenic (in APS1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available