A58G (p.Ala58Gly) variant of AIRE (Autoimmune regulator)
A58G (p.Ala58Gly) 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 0.81 / 1. The record also includes population frequency data and structural context.
A58G (p.Ala58Gly) variant details
- p.Ala58Gly
- rs747941115
- ClinGen CA10051495
- ClinVar RCV002022142
- ExAC rs747941115
- Pathogenic/Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.81
- MetaLR 0.88
- MetaSVM 0.94
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available