V20V (p.Val20Val) variant of AIRE (Autoimmune regulator)
V20V (p.Val20Val) in AIRE (Autoimmune regulator) is a synonymous 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.
V20V (p.Val20Val) variant details
- p.Val20Val
- gnomAD 21-44286066-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 9.62
- Population evidence available
- Structural context available
- Literature evidence available