A21P (p.Ala21Pro) variant of AIRE (Autoimmune regulator)
A21P (p.Ala21Pro) in AIRE (Autoimmune regulator) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- gnomAD 21-44286065-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available