E17D (p.Glu17Asp) variant of AIRE (Autoimmune regulator)
E17D (p.Glu17Asp) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- rs1036995518
- ClinGen CA321787731
- ClinVar RCV001069312
- gnomAD rs1036995518
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.63
- MetaLR 0.85
- MetaSVM 0.82
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available