C119Y (p.Cys119Tyr) variant of CYP27B1 (O15528)
C119Y (p.Cys119Tyr) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C119Y (p.Cys119Tyr) variant details
- p.Cys119Tyr
- ExAC rs776399364
- gnomAD rs776399364
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- Population evidence available
- Structural context available