L124R (p.Leu124Arg) variant of ALDH5A1 (P51649)
L124R (p.Leu124Arg) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Succinate-semialdehyde dehydrogenase deficiency. The record also includes published literature and structural context.
L124R (p.Leu124Arg) variant details
- p.Leu124Arg
- rs2532830876
- ClinGen CA362969052
- ClinVar RCV002510491
- Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- ClinVar: Likely pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Succinic Semialdehyde Dehydrogenase Deficiency. (PMID 20301374)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)