T68I (p.Thr68Ile) variant of CBS (Cystathionine beta-synthase)
T68I (p.Thr68Ile) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar 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 0.29 / 1. The record also includes experimental measurements and structural context.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- ExAC rs760770298
- gnomAD rs760770298
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- ESM-1b 0.03
- AlphaMissense 0.07
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6: score 0.665