W6C (p.Trp6Cys) variant of ALDH5A1 (P51649)
W6C (p.Trp6Cys) 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 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.
W6C (p.Trp6Cys) variant details
- p.Trp6Cys
- rs569456241
- ClinGen CA3656551
- ClinVar RCV000532244
- ClinVar RCV001090480
- Benign/Likely benign
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -1.02
- CADD 24.10
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Benign/Likely benign (not provided; Succinate-semialdehyde dehydrogenase deficiency)
- 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)