A33A (p.Ala33Ala) variant of AIRE (Autoimmune regulator)
A33A (p.Ala33Ala) 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.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- rs3746964
- gnomAD 21-44286105-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 3.94
- Most common in the HGDP:SAN population (allele frequency 0.8)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)