A183T (p.Ala183Thr) variant of CBS (Cystathionine beta-synthase)
A183T (p.Ala183Thr) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes experimental measurements and structural context.
A183T (p.Ala183Thr) variant details
- p.Ala183Thr
- ExAC rs772705832
- gnomAD rs772705832
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- ESM-1b 1.00
- AlphaMissense 0.37
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Classic)
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.847