R459P (p.Arg459Pro) variant of CYP27B1 (O15528)
R459P (p.Arg459Pro) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R459P (p.Arg459Pro) variant details
- p.Arg459Pro
- ExAC rs762550487
- TOPMed rs762550487
- gnomAD rs762550487
- Likely pathogenic
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.84
- ClinVar: Likely pathogenic (Vitamin D-dependent rickets, type 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available