R117C (p.Arg117Cys) variant of CYP27B1 (O15528)
R117C (p.Arg117Cys) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R117C (p.Arg117Cys) variant details
- p.Arg117Cys
- gnomAD rs1220713472
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- ESM-1b 1.00
- AlphaMissense 0.59
- Population evidence available
- Structural context available