C4G (p.Cys4Gly) variant of ALDH5A1 (P51649)
C4G (p.Cys4Gly) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C4G (p.Cys4Gly) variant details
- p.Cys4Gly
- rs200793796
- ClinGen CA3656548
- ClinVar RCV000298285
- ClinVar RCV000368436
- Benign/Likely benign
- not specified; not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.94
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Benign/Likely benign (not specified; not provided; Succinate-semialdehyde dehydrogenas)
- EBI: Benign
- UniProt: 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)