E176D (p.Glu176Asp) variant of CBS (Cystathionine beta-synthase)
E176D (p.Glu176Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements and structural context.
E176D (p.Glu176Asp) variant details
- p.Glu176Asp
- rs1180993602
- ClinGen CA410601272
- ClinVar RCV002889834
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- ESM-1b 1.00
- AlphaMissense 0.85
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Structural context available
- CBS low-B6: score 0.0298