C370R (p.Cys370Arg) variant of CBS (Cystathionine beta-synthase)
C370R (p.Cys370Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements and structural context.
C370R (p.Cys370Arg) variant details
- p.Cys370Arg
- rs1192694513
- ClinGen CA410398046
- ClinVar RCV003066949
- gnomAD rs1192694513
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.87
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Variant of uncertain significance (in CBSD)
- UniProt: Uncertain significance (in CBSD)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0517