C52* (p.Cys52Ter) variant of CBS (Cystathionine beta-synthase)
C52* (p.Cys52Ter) 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 and structural context.
C52* (p.Cys52Ter) variant details
- p.Cys52Ter
- rs1983442077
- ClinGen CA410602330
- ClinVar RCV002240573
- Ensembl rs1983442077
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.0945