R50G (p.Arg50Gly) variant of VDR (Vitamin D3 receptor)
R50G (p.Arg50Gly) in VDR (Vitamin D3 receptor) is a missense 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 0.78 / 1. The record also includes population frequency data and structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- ExAC rs201106427
- TOPMed rs201106427
- gnomAD rs201106427
- Pathogenic
- in VDDR2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.92
- MetaLR 0.98
- MetaSVM 0.92
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0024)
- Structural context available