G151V (p.Gly151Val) variant of CBS (Cystathionine beta-synthase)
G151V (p.Gly151Val) 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 Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements and structural context.
G151V (p.Gly151Val) variant details
- p.Gly151Val
- rs2146388335
- ClinGen CA410601541
- ClinVar RCV001771013
- Ensembl rs2146388335
- Likely pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.91
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Classic homocystinuria)
- EBI: Variant of uncertain significance (in CBSD)
- UniProt: Uncertain significance (in CBSD)
- Structural context available
- CBS high-B6: score 0.0153