R18Q (p.Arg18Gln) variant of VDR (Vitamin D3 receptor)
R18Q (p.Arg18Gln) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of VDR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- rs115085431
- ClinGen CA6534096
- ClinVar RCV003894539
- 1000Genomes rs115085431
- Uncertain significance
- VDR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.36
- MetaLR 0.77
- MetaSVM 0.58
- CADD 23.60
- PolyPhen-2 0.28
- SIFT 0.08
- ClinVar: Uncertain significance (VDR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available