V100E (p.Val100Glu) variant of VDR (Vitamin D3 receptor)
V100E (p.Val100Glu) 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 0.79 / 1. The record also includes population frequency data and structural context.
V100E (p.Val100Glu) variant details
- p.Val100Glu
- ExAC rs780886928
- TOPMed rs780886928
- gnomAD rs780886928
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.83
- MetaLR 0.92
- MetaSVM 1.01
- CADD 29.10
- PolyPhen-2 0.94
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available