R14G (p.Arg14Gly) variant of ALDH5A1 (P51649)
R14G (p.Arg14Gly) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- ExAC rs759844054
- TOPMed rs759844054
- gnomAD rs759844054
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.28
- MetaLR 0.15
- MetaSVM -0.83
- CADD 18.60
- PolyPhen-2 0.13
- SIFT 0.08
- Population evidence available
- Structural context available