G307D (p.Gly307Asp) variant of CBS (Cystathionine beta-synthase)
G307D (p.Gly307Asp) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar 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 1.00 / 1. The record also includes experimental measurements and structural context.
G307D (p.Gly307Asp) variant details
- p.Gly307Asp
- cosmic curated COSV10065
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- UniProt: Likely pathogenic (in CBSD)
- Structural context available
- CBS low-B6: score 0