R83H (p.Arg83His) variant of VDR (Vitamin D3 receptor)
R83H (p.Arg83His) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R83H (p.Arg83His) variant details
- p.Arg83His
- ExAC rs748467437
- gnomAD rs748467437
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.88
- MetaLR 0.93
- MetaSVM 1.07
- CADD 29.40
- PolyPhen-2 0.97
- SIFT 0.02
- Population evidence available
- Structural context available