R15G (p.Arg15Gly) variant of AIRE (Autoimmune regulator)
R15G (p.Arg15Gly) 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 0.82 / 1. The record also includes population frequency data and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- rs179363875
- ClinGen CA410422992
- ClinVar RCV001988247
- Ensembl rs179363875
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.84
- MetaLR 0.87
- MetaSVM 0.91
- CADD 25.40
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available