K384N (p.Lys384Asn) variant of CBS (Cystathionine beta-synthase)
K384N (p.Lys384Asn) 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 Classic homocystinuria; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes experimental measurements, published literature, and structural context.
K384N (p.Lys384Asn) variant details
- p.Lys384Asn
- rs1304669003
- ClinGen CA410397847
- ClinVar RCV001004615
- ClinVar RCV001540545
- Pathogenic/Likely pathogenic
- Classic homocystinuria; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.45
- MetaSVM -0.04
- SIFT 0.00
- MutPred 0.88
- ClinVar: Pathogenic/Likely pathogenic (Classic homocystinuria; Homocystinuria; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6: score 0
- Cited in: Cystathionine beta-synthase mutations in homocystinuria. (PMID 10338090)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)