A288T (p.Ala288Thr) variant of CBS (Cystathionine beta-synthase)
A288T (p.Ala288Thr) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A288T (p.Ala288Thr) variant details
- p.Ala288Thr
- rs141502207
- ClinGen CA321091505
- ClinVar RCV000671575
- ClinVar RCV002282314
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.96
- MetaSVM 1.11
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Classic)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6: score 0
- Cited in: Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. (PMID 16205833)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)