L11L (p.Leu11Leu) variant of AIRE (Autoimmune regulator)
L11L (p.Leu11Leu) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- gnomAD 21-44286039-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 9.51
- Population evidence available
- Structural context available
- Literature evidence available