R16C (p.Arg16Cys) variant of CYP27B1 (O15528)
R16C (p.Arg16Cys) 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.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- gnomAD rs1461772648
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.11
- Population evidence available
- Structural context available