R213G (p.Arg213Gly) variant of ALDH5A1 (P51649)
R213G (p.Arg213Gly) 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 0.52 / 1. The record also includes published literature and structural context.
R213G (p.Arg213Gly) variant details
- p.Arg213Gly
- rs774041089
- ClinGen CA362970036
- ClinVar RCV002510513
- Likely pathogenic
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.85
- MetaLR 0.42
- MetaSVM -0.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Likely pathogenic (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)