W78R (p.Trp78Arg) variant of AIRE (Autoimmune regulator)
W78R (p.Trp78Arg) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W78R (p.Trp78Arg) variant details
- p.Trp78Arg
- rs179363880
- ClinGen CA199112
- ClinVar RCV000169457
- ClinVar RCV001575328
- Pathogenic
- not provided; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.90
- MetaLR 0.88
- MetaSVM 0.90
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: APECED mutations in the autoimmune regulator (AIRE) gene. (PMID 11524731)
- Cited in: Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. (PMID 11524733)