D4D (p.Asp4Asp) variant of AIRE (Autoimmune regulator)
D4D (p.Asp4Asp) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D4D (p.Asp4Asp) variant details
- p.Asp4Asp
- rs768696010
- gnomAD 21-44286018-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.49
- Population evidence available
- Structural context available
- Literature evidence available