R30G (p.Arg30Gly) variant of VDR (Vitamin D3 receptor)
R30G (p.Arg30Gly) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- ExAC rs121909801
- gnomAD rs121909801
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.86
- MetaLR 0.93
- MetaSVM 1.03
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available