E132D (p.Glu132Asp) variant of CYP27B1 (O15528)
E132D (p.Glu132Asp) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E132D (p.Glu132Asp) variant details
- p.Glu132Asp
- TOPMed rs767032150
- gnomAD rs767032150
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- ESM-1b 0.52
- AlphaMissense 0.10
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available