C22* (p.Cys22Ter) variant of ALDH5A1 (P51649)
C22* (p.Cys22Ter) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C22* (p.Cys22Ter) variant details
- p.Cys22Ter
- gnomAD 6-24495062-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available