L24H (p.Leu24His) variant of ALDH5A1 (P51649)
L24H (p.Leu24His) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L24H (p.Leu24His) variant details
- p.Leu24His
- gnomAD 6-24495067-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -0.94
- CADD 11.80
- PolyPhen-2 0.14
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available