V22V (p.Val22Val) variant of AIRE (Autoimmune regulator)
V22V (p.Val22Val) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V22V (p.Val22Val) variant details
- p.Val22Val
- rs1028887337
- gnomAD 21-44286072-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 11.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available