G520S (p.Gly520Ser) variant of ALDH5A1 (P51649)
G520S (p.Gly520Ser) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G520S (p.Gly520Ser) variant details
- p.Gly520Ser
- rs1179619995
- ClinGen CA362967802
- ClinVar RCV000694933
- ClinVar RCV001771964
- Uncertain significance
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.94
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)