A28P (p.Ala28Pro) variant of ALDH5A1 (P51649)
A28P (p.Ala28Pro) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- gnomAD 6-24495078-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -1.02
- CADD 8.96
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available