R27P (p.Arg27Pro) variant of ALDH5A1 (P51649)
R27P (p.Arg27Pro) 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 0.21 / 1. The record also includes population frequency data and structural context.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- ExAC rs749120771
- TOPMed rs749120771
- gnomAD rs749120771
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.99
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available