G155S (p.Gly155Ser) variant of AIRE (Autoimmune regulator)
G155S (p.Gly155Ser) 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 0.66 / 1. The record also includes population frequency data.
G155S (p.Gly155Ser) variant details
- p.Gly155Ser
- rs193922418
- ClinGen CA213509
- ClinVar RCV000029313
- TOPMed rs193922418
- Pathogenic/Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.48
- MetaLR 0.87
- MetaSVM 0.71
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)