L13L (p.Leu13Leu) variant of AIRE (Autoimmune regulator)
L13L (p.Leu13Leu) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 21-44286043-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available