R73* (p.Arg73Ter) variant of VDR (Vitamin D3 receptor)
R73* (p.Arg73Ter) 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 0.57 / 1. The record also includes population frequency data and structural context.
R73* (p.Arg73Ter) variant details
- p.Arg73Ter
- rs980041568
- ClinGen CA236476911
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57466
- Pathogenic
- in VDDR2A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 38.00
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available