G125E (p.Gly125Glu) variant of CYP27B1 (O15528)
G125E (p.Gly125Glu) 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 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G125E (p.Gly125Glu) variant details
- p.Gly125Glu
- rs28934605
- ClinGen CA115125
- ClinVar RCV000001726
- UniProt VAR 016953
- Likely pathogenic
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.57
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Vitamin D-dependent rickets, type 1A)
- 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)