A12P (p.Ala12Pro) variant of ALDH5A1 (P51649)
A12P (p.Ala12Pro) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- gnomAD 6-24495026-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 6.05
- Population evidence available
- Structural context available
- Literature evidence available