G57D (p.Gly57Asp) variant of CBS (Cystathionine beta-synthase)
G57D (p.Gly57Asp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes experimental measurements, published literature, and structural context.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- rs1295461215
- ClinGen CA410602299
- ClinVar RCV001813042
- ClinVar RCV001830087
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.93
- MetaSVM 1.01
- SIFT 0.07
- MutPred 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS high-B6 imputed and refined: score 0.847
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)