G68D (p.Gly68Asp) variant of CYP27B1 (O15528)
G68D (p.Gly68Asp) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- TOPMed rs1477629069
- gnomAD rs1477629069
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- ESM-1b 1.00
- AlphaMissense 0.57
- Population evidence available
- Structural context available