L29L (p.Leu29Leu) variant of AIRE (Autoimmune regulator)
L29L (p.Leu29Leu) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L29L (p.Leu29Leu) variant details
- p.Leu29Leu
- gnomAD 21-44286091-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 10.60
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available