L24V (p.Leu24Val) variant of ALDH5A1 (P51649)
L24V (p.Leu24Val) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- gnomAD 6-24495066-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.02
- CADD 9.32
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available