R389G (p.Arg389Gly) variant of CYP27B1 (O15528)
R389G (p.Arg389Gly) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R389G (p.Arg389Gly) variant details
- p.Arg389Gly
- rs118204010
- ClinGen CA115134
- ClinVar RCV000001739
- UniProt VAR 016960
- Pathogenic
- Vitamin D-dependent rickets, type 1A
- 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 (Vitamin D-dependent rickets, type 1A)
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- 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: Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets… (PMID 10320521)