R51S (p.Arg51Ser) variant of CBS (Cystathionine beta-synthase)
R51S (p.Arg51Ser) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes experimental measurements, published literature, and structural context.
R51S (p.Arg51Ser) variant details
- p.Arg51Ser
- rs748795053
- ClinGen CA410602336
- ClinVar RCV002403148
- ClinVar RCV005648220
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.94
- MetaSVM 0.86
- SIFT 0.05
- MutPred 0.32
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- CBS high-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)