R15H (p.Arg15His) variant of AIRE (Autoimmune regulator)
R15H (p.Arg15His) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs179363876
- ClinGen CA410422994
- ClinVar RCV001283785
- TOPMed rs179363876
- Pathogenic/Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.82
- MetaLR 0.87
- MetaSVM 0.91
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Population evidence available
- Structural context available