L24P (p.Leu24Pro) variant of ALDH5A1 (P51649)
L24P (p.Leu24Pro) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- gnomAD 6-24495066-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available