P70L (p.Pro70Leu) variant of CBS (Cystathionine beta-synthase)
P70L (p.Pro70Leu) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Familial thoracic aortic aneurysm and aortic dissection; HYPERHOM. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- rs2229413
- ClinGen CA323808
- cosmic curated COSV61444
- ClinVar RCV000199276
- Conflicting interpretations
- not specified; Familial thoracic aortic aneurysm and aortic dissection; HYPERHOM
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- ESM-1b 0.47
- AlphaMissense 0.06
- MetaLR 0.73
- MetaSVM -0.31
- SIFT 0.66
- ClinVar: Conflicting classifications of pathogenicity (not specified; Familial thoracic aortic aneurysm and aortic diss)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.802
- 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)