R54G (p.Arg54Gly) variant of VDR (Vitamin D3 receptor)
R54G (p.Arg54Gly) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- TOPMed rs1442369494
- gnomAD rs1442369494
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.83
- MetaLR 0.92
- MetaSVM 1.01
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available