D120E (p.Asp120Glu) variant of CBS (Cystathionine beta-synthase)
D120E (p.Asp120Glu) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D120E (p.Asp120Glu) variant details
- p.Asp120Glu
- gnomAD 21-43055888-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 2.75
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.23
- Literature evidence available