L138F (p.Leu138Phe) variant of ALDH5A1 (P51649)
L138F (p.Leu138Phe) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Succinate-semialdehyde dehydrogenase deficiency. The record also includes published literature and structural context.
L138F (p.Leu138Phe) variant details
- p.Leu138Phe
- rs2532831031
- ClinGen CA362969243
- ClinVar RCV002510494
- cosmic curated COSV10070
- Pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- ClinVar: Pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: 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)