R28L (p.Arg28Leu) variant of CYP27B1 (O15528)
R28L (p.Arg28Leu) 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 structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- ExAC rs780429096
- TOPMed rs780429096
- gnomAD rs780429096
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.12
- Structural context available