L28L (p.Leu28Leu) variant of AIRE (Autoimmune regulator)
L28L (p.Leu28Leu) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- gnomAD 21-44286090-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 9.51
- Population evidence available
- Structural context available
- Literature evidence available