A21A (p.Ala21Ala) variant of AIRE (Autoimmune regulator)
A21A (p.Ala21Ala) 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.
A21A (p.Ala21Ala) variant details
- p.Ala21Ala
- rs371796437
- gnomAD 21-44286069-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0906
- CADD 1.41
- Most common in the HGDP:MOZABITE population (allele frequency 0.04)
- Structural context available
- Literature evidence available