M432L (p.Met432Leu) variant of ALDH5A1 (P51649)
M432L (p.Met432Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
M432L (p.Met432Leu) variant details
- p.Met432Leu
- rs1561879315
- ClinGen CA362978728
- ClinVar RCV002510536
- gnomAD rs1561879315
- Pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.88
- CADD 26.30
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)