G151W (p.Gly151Trp) variant of CBS (Cystathionine beta-synthase)
G151W (p.Gly151Trp) 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 CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G151W (p.Gly151Trp) variant details
- p.Gly151Trp
- rs373782713
- ClinGen CA321097412
- ClinVar RCV002233695
- ESP rs373782713
- Uncertain significance
- CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELA)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6: score 0.0153