R12R (p.Arg12Arg) variant of AIRE (Autoimmune regulator)
R12R (p.Arg12Arg) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R12R (p.Arg12Arg) variant details
- p.Arg12Arg
- gnomAD 21-44286042-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 12.40
- Population evidence available
- Structural context available
- Literature evidence available