E62K (p.Glu62Lys) variant of CBS (Cystathionine beta-synthase)
E62K (p.Glu62Lys) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Familial thoracic a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- rs199507134
- ClinGen CA321103764
- ClinVar RCV002937689
- ClinVar RCV005227802
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Familial thoracic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.25
- SIFT 0.95
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Fam)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBS high-B6: score 0.0847
- 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)