R34H (p.Arg34His) variant of CYP27B1 (O15528)
R34H (p.Arg34His) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
R34H (p.Arg34His) variant details
- p.Arg34His
- ExAC rs757388190
- TOPMed rs757388190
- gnomAD rs757388190
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available