p.Val22 Asp23del variant of AIRE (Autoimmune regulator)
p.Val22 Asp23del in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val22 Asp23del variant details
- rs752303080
- gnomAD 21-44286068-CCGTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 20.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available