S73C (p.Ser73Cys) variant of CBS (Cystathionine beta-synthase)
S73C (p.Ser73Cys) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S73C (p.Ser73Cys) variant details
- p.Ser73Cys
- rs2517470142
- ClinGen CA2580099043
- ClinVar RCV002307179
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 17.70
- PolyPhen-2 0.12
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00021)
- Structural context available
- CBS high-B6: score 0.797
- 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)