R50* (p.Arg50Ter) variant of VDR (Vitamin D3 receptor)
R50* (p.Arg50Ter) in VDR (Vitamin D3 receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VDDR2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R50* (p.Arg50Ter) variant details
- p.Arg50Ter
- rs201106427
- ClinGen CA384511783
- ClinVar RCV001843694
- ClinVar RCV002034718
- Pathogenic
- in VDDR2A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 41.00
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available