R80Q (p.Arg80Gln) variant of VDR (Vitamin D3 receptor)
R80Q (p.Arg80Gln) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets type II with alopecia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- rs121909793
- ClinGen CA119026
- cosmic curated COSV10721
- ClinVar RCV000008190
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.05
- CADD 28.80
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia; not provided)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to… (PMID 2177843)
- Cited in: Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor… (PMID 8106618)