S9F (p.Ser9Phe) variant of CYP27B1 (O15528)
S9F (p.Ser9Phe) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- ExAC rs748833551
- TOPMed rs748833551
- gnomAD rs748833551
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- ESM-1b 0.00
- AlphaMissense 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available