S17A (p.Ser17Ala) variant of ALDH5A1 (P51649)
S17A (p.Ser17Ala) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S17A (p.Ser17Ala) variant details
- p.Ser17Ala
- gnomAD 6-24495045-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.04
- CADD 8.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available