I18I (p.Ile18Ile) variant of AIRE (Autoimmune regulator)
I18I (p.Ile18Ile) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I18I (p.Ile18Ile) variant details
- p.Ile18Ile
- gnomAD 21-44286060-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 10.10
- Population evidence available
- Structural context available
- Literature evidence available