G16R (p.Gly16Arg) variant of ALDH5A1 (P51649)
G16R (p.Gly16Arg) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs1224797369
- ClinGen CA362968126
- ClinVar RCV002647574
- TOPMed rs1224797369
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.04
- CADD 6.07
- PolyPhen-2 0.00
- SIFT 0.39
- 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)