R22L (p.Arg22Leu) variant of VDR (Vitamin D3 receptor)
R22L (p.Arg22Leu) 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 0.84 / 1. The record also includes population frequency data and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- 1000Genomes rs201676749
- ExAC rs201676749
- TOPMed rs201676749
- gnomAD rs201676749
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.83
- MetaLR 0.93
- MetaSVM 1.07
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available