R73Q (p.Arg73Gln) variant of VDR (Vitamin D3 receptor)
R73Q (p.Arg73Gln) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- rs121909791
- ClinGen CA119020
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57469
- Pathogenic/Likely pathogenic
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Cited in: Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. (PMID 2849209)
- Cited in: A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II… (PMID 1652893)