R27S (p.Arg27Ser) variant of ALDH5A1 (P51649)
R27S (p.Arg27Ser) 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 0.24 / 1. The record also includes population frequency data and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- 1000Genomes rs779798309
- ExAC rs779798309
- TOPMed rs779798309
- gnomAD rs779798309
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -0.93
- CADD 6.47
- PolyPhen-2 0.05
- SIFT 0.58
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available