T16R (p.Thr16Arg) variant of AIRE (Autoimmune regulator)
T16R (p.Thr16Arg) 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 0.83 / 1. The record also includes population frequency data and structural context.
T16R (p.Thr16Arg) variant details
- p.Thr16Arg
- rs179363877
- ClinVar RCV004587984
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- MetaLR 0.87
- MetaSVM 0.91
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic (in APS1)
- UniProt: Likely pathogenic (in APS1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available