A12V (p.Ala12Val) variant of ALDH5A1 (P51649)
A12V (p.Ala12Val) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 6-24495031-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.28
- CADD 17.10
- PolyPhen-2 0.23
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available