G85E (p.Gly85Glu) variant of CBS (Cystathionine beta-synthase)
G85E (p.Gly85Glu) in CBS (Cystathionine beta-synthase) is a missense change. 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.
G85E (p.Gly85Glu) variant details
- p.Gly85Glu
- TOPMed rs1983111471
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.203