R459C (p.Arg459Cys) variant of CYP27B1 (O15528)
R459C (p.Arg459Cys) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CYP27B1-related disorder; Vitamin D-dependent rickets, type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R459C (p.Arg459Cys) variant details
- p.Arg459Cys
- rs555068245
- ClinGen CA6658143
- ClinVar RCV000626155
- ClinVar RCV001860473
- Pathogenic/Likely pathogenic
- CYP27B1-related disorder; Vitamin D-dependent rickets, type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.42
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CYP27B1-related disorder; Vitamin D-dependent rickets, type 1; n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available