G268E (p.Gly268Glu) variant of ALDH5A1 (P51649)
G268E (p.Gly268Glu) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Succinate-semialdehyde dehydrogenase defi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G268E (p.Gly268Glu) variant details
- p.Gly268Glu
- rs375628463
- ClinGen CA3656756
- ClinVar RCV000224315
- ClinVar RCV000524751
- Pathogenic
- Inborn genetic diseases; not provided; Succinate-semialdehyde dehydrogenase defi
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.86
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Succinate-semialdehyde de)
- 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)