R118S (p.Arg118Ser) variant of CYP27B1 (O15528)
R118S (p.Arg118Ser) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R118S (p.Arg118Ser) variant details
- p.Arg118Ser
- ExAC rs761365991
- gnomAD rs761365991
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- ESM-1b 0.00
- AlphaMissense 0.17
- Population evidence available
- Structural context available