R453H (p.Arg453His) variant of CYP27B1 (O15528)
R453H (p.Arg453His) 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 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R453H (p.Arg453His) variant details
- p.Arg453His
- rs759208930
- ClinGen CA6658146
- ClinVar RCV003417870
- ClinVar RCV003556305
- Pathogenic/Likely pathogenic
- CYP27B1-related disorder; Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.73
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CYP27B1-related disorder; Vitamin D-dependent rickets, type 1A;)
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- Population evidence available
- Structural context available