D34E (p.Asp34Glu) variant of AIRE (Autoimmune regulator)
D34E (p.Asp34Glu) 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 0.69 / 1. The record also includes population frequency data and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- rs2517875684
- ClinGen CA410423108
- ClinVar RCV002802076
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.68
- MetaLR 0.93
- MetaSVM 0.91
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available