C370Y (p.Cys370Tyr) variant of CBS (Cystathionine beta-synthase)
C370Y (p.Cys370Tyr) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C370Y (p.Cys370Tyr) variant details
- p.Cys370Tyr
- rs757920190
- ClinGen CA16621012
- ClinVar RCV000482454
- ClinVar RCV003155205
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; n)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.0517
- Cited in: Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. (PMID 10462600)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)