D376N (p.Asp376Asn) variant of CBS (Cystathionine beta-synthase)
D376N (p.Asp376Asn) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
D376N (p.Asp376Asn) variant details
- p.Asp376Asn
- rs1170128038
- ClinGen CA410397989
- ClinVar RCV002234919
- ClinVar RCV002510583
- Pathogenic/Likely pathogenic
- Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.99
- MetaSVM 0.93
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; n)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS high-B6: score 0
- Cited in: Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with… (PMID 14635102)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)