L64R (p.Leu64Arg) variant of CYP27B1 (O15528)
L64R (p.Leu64Arg) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L64R (p.Leu64Arg) variant details
- p.Leu64Arg
- gnomAD rs1402984747
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- ESM-1b 1.00
- AlphaMissense 0.36
- Population evidence available
- Structural context available