P59S (p.Pro59Ser) variant of CBS (Cystathionine beta-synthase)
P59S (p.Pro59Ser) 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; not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs376496085
- ClinGen CA321103799
- ClinVar RCV002241156
- ClinVar RCV002402692
- Conflicting interpretations
- not specified; not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.18
- SIFT 0.42
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, C)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.892
- 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)