P19H (p.Pro19His) variant of CYP27B1 (O15528)
P19H (p.Pro19His) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- ExAC rs764196493
- TOPMed rs764196493
- gnomAD rs764196493
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.10
- Population evidence available
- Structural context available