R389C (p.Arg389Cys) variant of CYP27B1 (O15528)
R389C (p.Arg389Cys) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R389C (p.Arg389Cys) variant details
- p.Arg389Cys
- rs118204010
- ClinGen CA6658200
- ClinVar RCV001868859
- ClinVar RCV005006048
- Pathogenic/Likely pathogenic
- Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.75
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Vitamin D-dependent rickets, type 1A; not provided)
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- Population evidence available
- Structural context available
- Cited in: No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets… (PMID 10566658)
- Cited in: Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets… (PMID 10320521)