R92W (p.Arg92Trp) variant of AIRE (Autoimmune regulator)
R92W (p.Arg92Trp) 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 not provided; Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R92W (p.Arg92Trp) variant details
- p.Arg92Trp
- rs140630532
- ClinGen CA16608527
- ClinVar RCV000425106
- ClinVar RCV000666247
- Pathogenic/Likely pathogenic
- not provided; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.72
- MetaLR 0.84
- MetaSVM 0.63
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available