R83C (p.Arg83Cys) variant of VDR (Vitamin D3 receptor)
R83C (p.Arg83Cys) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R83C (p.Arg83Cys) variant details
- p.Arg83Cys
- ExAC rs773329096
- TOPMed rs773329096
- gnomAD rs773329096
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.86
- MetaLR 0.89
- MetaSVM 0.95
- CADD 32.00
- PolyPhen-2 0.43
- SIFT 0.01
- Population evidence available
- Structural context available