I278S (p.Ile278Ser) variant of CBS (Cystathionine beta-synthase)
I278S (p.Ile278Ser) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
I278S (p.Ile278Ser) variant details
- p.Ile278Ser
- rs5742905
- ClinGen CA410600182
- ClinVar RCV004018181
- UniProt VAR 066100
- Likely pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.94
- MetaSVM 1.11
- SIFT 0.00
- ClinVar: Likely pathogenic (Classic homocystinuria)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS high-B6: score 0
- Cited in: Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. (PMID 21520339)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)