D4E (p.Asp4Glu) variant of AIRE (Autoimmune regulator)
D4E (p.Asp4Glu) in AIRE (Autoimmune regulator) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- ExAC rs768696010
- TOPMed rs768696010
- gnomAD rs768696010
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.29
- MetaLR 0.40
- MetaSVM -0.31
- CADD 7.00
- PolyPhen-2 0.35
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available