L81V (p.Leu81Val) variant of CBS (Cystathionine beta-synthase)
L81V (p.Leu81Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes experimental measurements, published literature, and structural context.
L81V (p.Leu81Val) variant details
- p.Leu81Val
- rs1480481730
- ClinGen CA410602142
- ClinVar RCV003324458
- ClinVar RCV004823146
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- ESM-1b 0.49
- AlphaMissense 0.19
- MetaLR 0.97
- MetaSVM 1.05
- SIFT 0.03
- MutPred 0.47
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not spe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.242
- 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)