N228S (p.Asn228Ser) variant of CBS (Cystathionine beta-synthase)
N228S (p.Asn228Ser) 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; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
N228S (p.Asn228Ser) variant details
- p.Asn228Ser
- rs1555874803
- ClinGen CA410600619
- ClinVar RCV000669206
- ClinVar RCV002232634
- Pathogenic/Likely pathogenic
- Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, TH)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0179
- 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)