R8H (p.Arg8His) variant of AIRE (Autoimmune regulator)
R8H (p.Arg8His) 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 0.76 / 1. The record also includes population frequency data and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- rs1206933109
- ClinGen CA410422953
- ClinVar RCV003636331
- TOPMed rs1206933109
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.72
- MetaLR 0.87
- MetaSVM 0.89
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available