T16A (p.Thr16Ala) variant of AIRE (Autoimmune regulator)
T16A (p.Thr16Ala) 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 0.74 / 1. The record also includes population frequency data and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- rs1340739925
- ClinGen CA410422996
- ClinVar RCV003045755
- gnomAD rs1340739925
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.78
- MetaLR 0.86
- MetaSVM 0.85
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic (in APS1)
- UniProt: Likely pathogenic (in APS1)
- Population evidence available
- Structural context available