W54* (p.Trp54Ter) variant of CBS (Cystathionine beta-synthase)
W54* (p.Trp54Ter) in CBS (Cystathionine beta-synthase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
W54* (p.Trp54Ter) variant details
- p.Trp54Ter
- rs199948079
- ClinGen CA321707
- ClinVar RCV000409663
- ClinVar RCV002229029
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.2
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)