R8W (p.Arg8Trp) variant of ALDH5A1 (P51649)
R8W (p.Arg8Trp) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Succinate-semialdehyde dehydrogenase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs767601869
- ClinGen CA3656555
- ClinVar RCV001415778
- ClinVar RCV001762674
- Conflicting interpretations
- Succinate-semialdehyde dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.38
- MetaLR 0.18
- MetaSVM -0.90
- CADD 27.30
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Succinate-semialdehyde dehydrogenase deficiency; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)