R83P (p.Arg83Pro) variant of VDR (Vitamin D3 receptor)
R83P (p.Arg83Pro) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R83P (p.Arg83Pro) variant details
- p.Arg83Pro
- ExAC rs748467437
- gnomAD rs748467437
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.87
- MetaLR 0.89
- MetaSVM 0.94
- CADD 25.40
- PolyPhen-2 0.29
- SIFT 0.02
- Population evidence available
- Structural context available