R13W (p.Arg13Trp) variant of ALDH5A1 (P51649)
R13W (p.Arg13Trp) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- rs766443938
- ClinGen CA3656559
- ClinVar RCV001367518
- ClinVar RCV001553422
- Uncertain significance
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.24
- MetaLR 0.15
- MetaSVM -0.82
- CADD 17.60
- PolyPhen-2 0.18
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; 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)