R25S (p.Arg25Ser) variant of ALDH5A1 (P51649)
R25S (p.Arg25Ser) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- gnomAD 6-24495069-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -0.96
- CADD 6.97
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available