S32P (p.Ser32Pro) variant of CBS (Cystathionine beta-synthase)
S32P (p.Ser32Pro) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of 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.
S32P (p.Ser32Pro) variant details
- p.Ser32Pro
- ExAC rs753430439
- gnomAD rs753430439
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.05
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Likely benign
- Structural context available
- CBS low-B6 imputed and refined: score 0