G85W (p.Gly85Trp) variant of CBS (Cystathionine beta-synthase)
G85W (p.Gly85Trp) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CBSD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G85W (p.Gly85Trp) variant details
- p.Gly85Trp
- gnomAD rs863223435
- Pathogenic
- in CBSD
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0004)
- Structural context available
- CBS low-B6 imputed and refined: score 0.203