G21D (p.Gly21Asp) variant of ALDH5A1 (P51649)
G21D (p.Gly21Asp) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- rs371923295
- ClinGen CA3656565
- ClinVar RCV000537726
- ExAC rs371923295
- Likely benign
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -0.92
- CADD 14.70
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Likely benign (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- 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)