R379G (p.Arg379Gly) variant of CBS (Cystathionine beta-synthase)
R379G (p.Arg379Gly) 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 0.88 / 1. The record also includes experimental measurements and structural context.
R379G (p.Arg379Gly) variant details
- p.Arg379Gly
- rs769080151
- ClinGen CA410397962
- ClinVar RCV003598741
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.98
- MetaSVM 1.10
- SIFT 0.00
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.033