R84H (p.Arg84His) variant of CYP27B1 (O15528)
R84H (p.Arg84His) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R84H (p.Arg84His) variant details
- p.Arg84His
- gnomAD rs1408323166
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- Population evidence available
- Structural context available