A12G (p.Ala12Gly) variant of ALDH5A1 (P51649)
A12G (p.Ala12Gly) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- rs1397344379
- gnomAD 6-24495026-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 18.90
- Population evidence available
- Structural context available
- Literature evidence available