R23A (p.Arg23Ala) variant of ALDH5A1 (P51649)
R23A (p.Arg23Ala) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R23A (p.Arg23Ala) variant details
- p.Arg23Ala
- gnomAD 6-24495061-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available