A12D (p.Ala12Asp) variant of ALDH5A1 (P51649)
A12D (p.Ala12Asp) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- gnomAD 6-24495031-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.42
- CADD 21.50
- PolyPhen-2 0.29
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available