P382L (p.Pro382Leu) variant of ALDH5A1 (P51649)
P382L (p.Pro382Leu) 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.
P382L (p.Pro382Leu) variant details
- p.Pro382Leu
- rs2532868391
- ClinGen CA362976570
- ClinVar RCV002510530
- UniProt VAR 026206
- Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- ClinVar: Likely pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Pathogenic (in SSADHD)
- UniProt: Pathogenic (in SSADHD)
- Structural context available
- Cited in: Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel… (PMID 14635103)
- Cited in: Succinic Semialdehyde Dehydrogenase Deficiency. (PMID 20301374)