C109R (p.Cys109Arg) variant of CBS (Cystathionine beta-synthase)
C109R (p.Cys109Arg) 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 CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C109R (p.Cys109Arg) variant details
- p.Cys109Arg
- rs778220779
- ClinGen CA324303
- ClinVar RCV000199752
- ClinVar RCV000535881
- Pathogenic/Likely pathogenic
- CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinu
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELA)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the REMAINING population (allele frequency 6e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.361
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)