R16L (p.Arg16Leu) variant of CYP27B1 (O15528)
R16L (p.Arg16Leu) 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.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- ExAC rs765408119
- gnomAD rs765408119
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available