V118L (p.Val118Leu) variant of CBS (Cystathionine beta-synthase)
V118L (p.Val118Leu) 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 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V118L (p.Val118Leu) variant details
- p.Val118Leu
- rs763385546
- ClinGen CA410601886
- ClinVar RCV002459400
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.7e-06)
- 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)