R213Q (p.Arg213Gln) variant of ALDH5A1 (P51649)
R213Q (p.Arg213Gln) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R213Q (p.Arg213Gln) variant details
- p.Arg213Gln
- rs553257538
- ClinGen CA3656682
- ClinVar RCV003083459
- 1000Genomes rs553257538
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.85
- AlphaMissense 0.83
- MetaLR 0.64
- MetaSVM 0.42
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (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)