D120G (p.Asp120Gly) variant of CBS (Cystathionine beta-synthase)
D120G (p.Asp120Gly) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
D120G (p.Asp120Gly) variant details
- p.Asp120Gly
- rs1982750491
- ClinGen CA410601870
- cosmic curated COSV61444
- ClinVar RCV001344817
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.04
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.23
- 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)