P2L (p.Pro2Leu) variant of CBS (Cystathionine beta-synthase)
P2L (p.Pro2Leu) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection; HYPERHOMO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs546530618
- ClinGen CA324871
- ClinVar RCV002291590
- ClinVar RCV002354543
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; HYPERHOMO
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.91
- MetaSVM 0.80
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.809
- 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)