G284R (p.Gly284Arg) variant of ALDH5A1 (P51649)
G284R (p.Gly284Arg) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Likely inborn error of metabolism. The record also includes variant effect predictions and structural context.
G284R (p.Gly284Arg) variant details
- p.Gly284Arg
- Ensembl rs1213653374
- Likely pathogenic
- Likely inborn error of metabolism
- Missense
- MetaLR 1.00
- MetaSVM 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Likely inborn error of metabolism)
- UniProt: Likely pathogenic
- Structural context available