K83E (p.Lys83Glu) variant of AIRE (Autoimmune regulator)
K83E (p.Lys83Glu) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
K83E (p.Lys83Glu) variant details
- p.Lys83Glu
- rs121434255
- ClinGen CA116137
- ClinVar RCV000003471
- UniProt VAR 005005
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.91
- MetaLR 0.87
- MetaSVM 1.03
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: APECED mutations in the autoimmune regulator (AIRE) gene. (PMID 11524731)
- Cited in: APECED-causing mutations in AIRE reveal the functional domains of the protein. (PMID 14974083)