C4W (p.Cys4Trp) variant of ALDH5A1 (P51649)
C4W (p.Cys4Trp) in ALDH5A1 (P51649) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
C4W (p.Cys4Trp) variant details
- p.Cys4Trp
- ExAC rs764183507
- TOPMed rs764183507
- gnomAD rs764183507
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.44
- MetaLR 0.26
- MetaSVM -0.48
- CADD 23.90
- PolyPhen-2 0.52
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available