R27A (p.Arg27Ala) variant of ALDH5A1 (P51649)
R27A (p.Arg27Ala) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R27A (p.Arg27Ala) variant details
- p.Arg27Ala
- rs1247811674
- gnomAD 6-24495070-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.10
- Population evidence available
- Structural context available
- Literature evidence available