R23L (p.Arg23Leu) variant of ALDH5A1 (P51649)
R23L (p.Arg23Leu) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- gnomAD 6-24495064-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -0.92
- CADD 8.42
- PolyPhen-2 0.00
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available