R459H (p.Arg459His) variant of CYP27B1 (O15528)
R459H (p.Arg459His) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Vitamin D-dependent rickets, type 1A; not provided. 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.
R459H (p.Arg459His) variant details
- p.Arg459His
- rs762550487
- ClinGen CA6658142
- NCI-TCGA Cosmic COSV5698
- Pathogenic/Likely pathogenic
- Vitamin D-dependent rickets, type 1A; not provided
- 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 (Vitamin D-dependent rickets, type 1A; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available