C4* (p.Cys4Ter) variant of ALDH5A1 (P51649)
C4* (p.Cys4Ter) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
C4* (p.Cys4Ter) variant details
- p.Cys4Ter
- gnomAD 6-24495008-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available