P12S (p.Pro12Ser) variant of CBS (Cystathionine beta-synthase)
P12S (p.Pro12Ser) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided; HYPERHOMO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs558259739
- ClinGen CA321523
- ClinVar RCV002229439
- ClinVar RCV002336521
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; not provided; HYPERHOMO
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.76
- MetaSVM 0.32
- SIFT 1.00
- MutPred 0.08
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Likely benign
- UniProt: Likely benign
- 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)