A19T (p.Ala19Thr) variant of AIRE (Autoimmune regulator)
A19T (p.Ala19Thr) 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 0.71 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs1555871798
- ClinGen CA410423016
- ClinVar RCV000669082
- Ensembl rs1555871798
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.73
- MetaLR 0.88
- MetaSVM 0.85
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available