S9Y (p.Ser9Tyr) variant of CYP27B1 (O15528)
S9Y (p.Ser9Tyr) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- ExAC rs748833551
- TOPMed rs748833551
- gnomAD rs748833551
- Uncertain significance
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.16
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available