E20D (p.Glu20Asp) variant of CYP27B1 (O15528)
E20D (p.Glu20Asp) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- ExAC rs771838478
- TOPMed rs771838478
- gnomAD rs771838478
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- Population evidence available
- Structural context available