R27G (p.Arg27Gly) variant of ALDH5A1 (P51649)
R27G (p.Arg27Gly) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs779798309
- ClinGen CA136122133
- ClinVar RCV001051928
- ClinVar RCV001558448
- Conflicting interpretations
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.86
- CADD 8.39
- PolyPhen-2 0.09
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (not provided; Succinate-semialdehyde dehydrogenase deficiency)
- 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)