D35Y (p.Asp35Tyr) variant of CBS (Cystathionine beta-synthase)
D35Y (p.Asp35Tyr) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CBS-related disorder; Cardiovascular phenotype; Familial thoracic aortic aneurys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D35Y (p.Asp35Tyr) variant details
- p.Asp35Tyr
- rs368471318
- ClinGen CA321103959
- ClinVar RCV002389708
- ClinVar RCV003095232
- Uncertain significance
- CBS-related disorder; Cardiovascular phenotype; Familial thoracic aortic aneurys
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- ESM-1b 0.08
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.85
- SIFT 0.03
- ClinVar: Uncertain significance (CBS-related disorder; Cardiovascular phenotype; Familial thoraci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBS low-B6: score 0
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)