C531Y (p.Cys531Tyr) variant of ALDH5A1 (P51649)
C531Y (p.Cys531Tyr) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C531Y (p.Cys531Tyr) variant details
- p.Cys531Tyr
- rs953870735
- ClinGen CA136113856
- ClinVar RCV001910470
- TOPMed rs953870735
- Pathogenic/Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.87
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely 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)