R459L (p.Arg459Leu) variant of CYP27B1 (O15528)
R459L (p.Arg459Leu) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R459L (p.Arg459Leu) variant details
- p.Arg459Leu
- rs762550487
- ClinVar RCV004586045
- ClinVar RCV005101985
- ExAC rs762550487
- Pathogenic/Likely pathogenic
- not provided; Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.40
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Vitamin D-dependent rickets, type 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available