A139D (p.Ala139Asp) variant of ALDH5A1 (P51649)
A139D (p.Ala139Asp) 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 0.67 / 1. The record also includes published literature and structural context.
A139D (p.Ala139Asp) variant details
- p.Ala139Asp
- rs1759220347
- ClinGen CA362969257
- ClinVar RCV002510495
- Pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.16
- MetaLR 0.82
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.12
- MutPred 0.83
- 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)