S17* (p.Ser17Ter) variant of ALDH5A1 (P51649)
S17* (p.Ser17Ter) 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.
S17* (p.Ser17Ter) variant details
- p.Ser17Ter
- gnomAD 6-24495046-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available