S17R (p.Ser17Arg) variant of ALDH5A1 (P51649)
S17R (p.Ser17Arg) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- gnomAD 6-24495041-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.80
- Population evidence available
- Structural context available
- Literature evidence available