R50Q (p.Arg50Gln) variant of VDR (Vitamin D3 receptor)
R50Q (p.Arg50Gln) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs121909794
- ClinGen CA119028
- cosmic curated COSV57469
- ClinVar RCV000008191
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 0.99
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- 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 4.4e-05)
- Structural context available
- Cited in: A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II… (PMID 1652893)
- Cited in: Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. (PMID 2558018)