R107H (p.Arg107His) variant of CYP27B1 (O15528)
R107H (p.Arg107His) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitamin D-dependent rickets, type 1. 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.
R107H (p.Arg107His) variant details
- p.Arg107His
- rs28934604
- ClinGen CA115124
- ClinVar RCV000001725
- ClinVar RCV001195100
- Likely pathogenic
- Vitamin D-dependent rickets, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.55
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Vitamin D-dependent rickets, type 1)
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- Population evidence available
- Structural context available
- Cited in: Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency… (PMID 9486994)
- Cited in: Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets… (PMID 10320521)