K25N (p.Lys25Asn) variant of CBS (Cystathionine beta-synthase)
K25N (p.Lys25Asn) 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; Familial thoracic aortic aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements, published literature, and structural context.
K25N (p.Lys25Asn) variant details
- p.Lys25Asn
- rs1484147890
- ClinGen CA410602498
- cosmic curated COSV61443
- ClinVar RCV001896245
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.81
- MetaSVM 0.47
- SIFT 0.59
- MutPred 0.15
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- CBS low-B6 imputed and refined: score 0.518
- 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)