A8V (p.Ala8Val) variant of CBS (Cystathionine beta-synthase)
A8V (p.Ala8Val) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic aortic aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes experimental measurements, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs919403971
- ClinGen CA410602599
- ClinVar RCV002242412
- ClinVar RCV003169729
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.75
- SIFT 0.12
- MutPred 0.15
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.15
- 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)