C346R (p.Cys346Arg) variant of CBS (Cystathionine beta-synthase)
C346R (p.Cys346Arg) 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 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
C346R (p.Cys346Arg) variant details
- p.Cys346Arg
- rs2517424268
- ClinGen CA410599740
- ClinVar RCV003448861
- Likely pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Classic homocystinuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.681
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)