R18P (p.Arg18Pro) variant of VDR (Vitamin D3 receptor)
R18P (p.Arg18Pro) 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 0.65 / 1. The record also includes population frequency data and structural context.
R18P (p.Arg18Pro) variant details
- p.Arg18Pro
- 1000Genomes rs115085431
- TOPMed rs115085431
- gnomAD rs115085431
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.62
- MetaLR 0.82
- MetaSVM 0.73
- CADD 24.00
- PolyPhen-2 0.75
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available