R34L (p.Arg34Leu) variant of CYP27B1 (O15528)
R34L (p.Arg34Leu) 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 population frequency data and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- ExAC rs757388190
- TOPMed rs757388190
- gnomAD rs757388190
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- Population evidence available
- Structural context available