R27L (p.Arg27Leu) variant of ALDH5A1 (P51649)
R27L (p.Arg27Leu) in ALDH5A1 (P51649) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- ExAC rs749120771
- TOPMed rs749120771
- gnomAD rs749120771
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -1.02
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available