S44F (p.Ser44Phe) variant of CYP27B1 (O15528)
S44F (p.Ser44Phe) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- gnomAD rs1165833658
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- ESM-1b 1.00
- AlphaMissense 0.47
- Population evidence available
- Structural context available