R389H (p.Arg389His) variant of CYP27B1 (O15528)
R389H (p.Arg389His) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R389H (p.Arg389His) variant details
- p.Arg389His
- rs118204009
- ClinGen CA115133
- ClinVar RCV000001736
- ClinVar RCV000481523
- Pathogenic/Likely pathogenic
- CYP27B1-related disorder; Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.53
- MetaSVM 0.18
- 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
- Cited in: Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. (PMID 12050193)
- Cited in: Rare variants in the CYP27B1 gene are associated with multiple sclerosis. (PMID 22190362)