A25T (p.Ala25Thr) variant of AIRE (Autoimmune regulator)
A25T (p.Ala25Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- ExAC rs761025044
- TOPMed rs761025044
- gnomAD rs761025044
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.42
- MetaLR 0.77
- MetaSVM 0.41
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.24
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.3e-05)
- Structural context available