H62Y (p.His62Tyr) variant of CYP27B1 (O15528)
H62Y (p.His62Tyr) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
H62Y (p.His62Tyr) variant details
- p.His62Tyr
- ExAC rs757673918
- gnomAD rs757673918
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- ESM-1b 1.00
- AlphaMissense 0.71
- Population evidence available
- Structural context available