A2E (p.Ala2Glu) variant of ALDH5A1 (P51649)
A2E (p.Ala2Glu) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 6-24495001-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.44
- CADD 24.50
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available