R60S (p.Arg60Ser) variant of CYP27B1 (O15528)
R60S (p.Arg60Ser) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R60S (p.Arg60Ser) variant details
- p.Arg60Ser
- gnomAD rs1343219109
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- ESM-1b 0.13
- AlphaMissense 0.56
- Population evidence available
- Structural context available