D34D (p.Asp34Asp) variant of AIRE (Autoimmune regulator)
D34D (p.Asp34Asp) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D34D (p.Asp34Asp) variant details
- p.Asp34Asp
- gnomAD 21-44286108-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 12.50
- Population evidence available
- Structural context available
- Literature evidence available