L7M (p.Leu7Met) variant of ALDH5A1 (P51649)
L7M (p.Leu7Met) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- gnomAD 6-24495015-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.24
- CADD 24.10
- PolyPhen-2 0.46
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available