G29S (p.Gly29Ser) variant of ALDH5A1 (P51649)
G29S (p.Gly29Ser) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- rs940450388
- ClinGen CA136122136
- ClinVar RCV002632399
- TOPMed rs940450388
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.05
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)