T18M (p.Thr18Met) variant of ALDH5A1 (P51649)
T18M (p.Thr18Met) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T18M (p.Thr18Met) variant details
- p.Thr18Met
- gnomAD 6-24495049-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -0.93
- CADD 5.53
- PolyPhen-2 0.05
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available