G409D (p.Gly409Asp) variant of ALDH5A1 (P51649)
G409D (p.Gly409Asp) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G409D (p.Gly409Asp) variant details
- p.Gly409Asp
- rs118203984
- ClinGen CA251762
- ClinVar RCV000001424
- ClinVar RCV001725927
- Pathogenic/Likely pathogenic
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.94
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Pathogenic (in SSADHD)
- UniProt: Pathogenic (in SSADHD)
- Population evidence available
- Structural context available
- Cited in: Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and… (PMID 11243727)
- Cited in: Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel… (PMID 14635103)