A28S (p.Ala28Ser) variant of ALDH5A1 (P51649)
A28S (p.Ala28Ser) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 6-24495078-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.02
- CADD 6.97
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available