A6A (p.Ala6Ala) variant of AIRE (Autoimmune regulator)
A6A (p.Ala6Ala) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- rs1228505896
- gnomAD 21-44286024-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.81
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available