E17* (p.Glu17Ter) variant of AIRE (Autoimmune regulator)
E17* (p.Glu17Ter) in AIRE (Autoimmune regulator) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- gnomAD 21-44286055-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available