I44M (p.Ile44Met) variant of CBS (Cystathionine beta-synthase)
I44M (p.Ile44Met) 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 Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes experimental measurements, published literature, and structural context.
I44M (p.Ile44Met) variant details
- p.Ile44Met
- rs1334019279
- ClinGen CA410602377
- ClinVar RCV002385881
- gnomAD rs1334019279
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.96
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- CBS high-B6 imputed and refined: score 0.769
- 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)