S217F (p.Ser217Phe) variant of CBS (Cystathionine beta-synthase)
S217F (p.Ser217Phe) 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 Homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
S217F (p.Ser217Phe) variant details
- p.Ser217Phe
- rs1555874874
- ClinGen CA410600786
- ClinVar RCV000673555
- ClinVar RCV005407871
- Likely pathogenic
- Homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Homocystinuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.861
- 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)