R110L (p.Arg110Leu) variant of VDR (Vitamin D3 receptor)
R110L (p.Arg110Leu) 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 0.76 / 1. The record also includes population frequency data and structural context.
R110L (p.Arg110Leu) variant details
- p.Arg110Leu
- ExAC rs756858031
- TOPMed rs756858031
- gnomAD rs756858031
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.77
- MetaLR 0.86
- MetaSVM 0.90
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available