G252V (p.Gly252Val) variant of ALDH5A1 (P51649)
G252V (p.Gly252Val) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G252V (p.Gly252Val) variant details
- p.Gly252Val
- rs976950675
- ClinGen CA362971567
- ClinVar RCV002510519
- Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.82
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (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)