G46D (p.Gly46Asp) variant of VDR (Vitamin D3 receptor)
G46D (p.Gly46Asp) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- rs121909797
- ClinGen CA119034
- ClinVar RCV000008194
- UniProt VAR 004659
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Pathogenic (Vitamin D-dependent rickets type II with alopecia)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary… (PMID 8675579)
- Cited in: A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II… (PMID 1652893)