A5T (p.Ala5Thr) variant of AIRE (Autoimmune regulator)
A5T (p.Ala5Thr) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyglandular autoimmune syndrome, type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs774168916
- ClinGen CA10051459
- ClinVar RCV002623446
- ExAC rs774168916
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.18
- MetaLR 0.44
- MetaSVM -0.53
- CADD 8.95
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1; Inborn genetic diseas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available