A58D (p.Ala58Asp) variant of AIRE (Autoimmune regulator)
A58D (p.Ala58Asp) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 and structural context.
A58D (p.Ala58Asp) variant details
- p.Ala58Asp
- rs747941115
- ClinGen CA410423286
- ClinVar RCV000672123
- ExAC rs747941115
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.93
- MetaLR 0.88
- MetaSVM 0.95
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available