S17T (p.Ser17Thr) variant of ALDH5A1 (P51649)
S17T (p.Ser17Thr) 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.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- gnomAD 6-24495045-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.03
- CADD 7.59
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available