R23S (p.Arg23Ser) variant of ALDH5A1 (P51649)
R23S (p.Arg23Ser) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R23S (p.Arg23Ser) variant details
- p.Arg23Ser
- gnomAD 6-24495063-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -0.99
- CADD 3.84
- PolyPhen-2 0.01
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available