L15H (p.Leu15His) variant of ALDH5A1 (P51649)
L15H (p.Leu15His) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L15H (p.Leu15His) variant details
- p.Leu15His
- gnomAD 6-24495040-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.22
- CADD 17.10
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available