R28Q (p.Arg28Gln) variant of CYP27B1 (O15528)
R28Q (p.Arg28Gln) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- ExAC rs780429096
- TOPMed rs780429096
- gnomAD rs780429096
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- Population evidence available
- Structural context available