A2S (p.Ala2Ser) variant of ALDH5A1 (P51649)
A2S (p.Ala2Ser) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 6-24495000-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.20
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available