G26A (p.Gly26Ala) variant of CBS (Cystathionine beta-synthase)
G26A (p.Gly26Ala) 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 specified; not provided; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes experimental measurements, published literature, and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- rs746782366
- ClinGen CA321104037
- ClinVar RCV002409910
- ClinVar RCV004782930
- Uncertain significance
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.84
- SIFT 0.17
- ClinVar: Uncertain significance (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)