C10R (p.Cys10Arg) variant of ALDH5A1 (P51649)
C10R (p.Cys10Arg) 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.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- TOPMed rs1011665766
- gnomAD rs1011665766
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.00
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available