R30* (p.Arg30Ter) variant of VDR (Vitamin D3 receptor)
R30* (p.Arg30Ter) in VDR (Vitamin D3 receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R30* (p.Arg30Ter) variant details
- p.Arg30Ter
- rs121909801
- ClinGen CA119042
- ClinVar RCV000008198
- ClinVar RCV003555969
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin… (PMID 9360557)
- Cited in: Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the… (PMID 9495519)