R8L (p.Arg8Leu) variant of ALDH5A1 (P51649)
R8L (p.Arg8Leu) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 6-24495019-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available