A5A (p.Ala5Ala) variant of AIRE (Autoimmune regulator)
A5A (p.Ala5Ala) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- gnomAD 21-44286021-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.087
- CADD 0.90
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available