E40D (p.Glu40Asp) variant of CBS (Cystathionine beta-synthase)
E40D (p.Glu40Asp) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of CBS-related disorder; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- ExAC rs764487170
- gnomAD rs764487170
- Uncertain significance
- CBS-related disorder; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (CBS-related disorder; Familial thoracic aortic aneurysm and aort)
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.61