S349G (p.Ser349Gly) variant of CBS (Cystathionine beta-synthase)
S349G (p.Ser349Gly) 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 population frequency data, experimental measurements, and structural context.
S349G (p.Ser349Gly) variant details
- p.Ser349Gly
- rs763890444
- ClinGen CA321689884
- ClinVar RCV003598181
- ExAC rs763890444
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.97
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.943