G29A (p.Gly29Ala) variant of ALDH5A1 (P51649)
G29A (p.Gly29Ala) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G29A (p.Gly29Ala) variant details
- p.Gly29Ala
- rs768533338
- ClinGen CA3656570
- ClinVar RCV001065789
- ClinVar RCV001200286
- Uncertain significance
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.10
- CADD 7.61
- PolyPhen-2 0.01
- SIFT 0.91
- ClinVar: Uncertain significance (not provided; 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)