A19A (p.Ala19Ala) variant of AIRE (Autoimmune regulator)
A19A (p.Ala19Ala) 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.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- gnomAD 21-44286063-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0882
- CADD 1.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available