G26E (p.Gly26Glu) variant of CBS (Cystathionine beta-synthase)
G26E (p.Gly26Glu) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
G26E (p.Gly26Glu) variant details
- p.Gly26Glu
- cosmic curated COSV61442
- ExAC rs746782366
- gnomAD rs746782366
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6: score 0