E92D (p.Glu92Asp) variant of VDR (Vitamin D3 receptor)
E92D (p.Glu92Asp) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E92D (p.Glu92Asp) variant details
- p.Glu92Asp
- ExAC rs779687938
- TOPMed rs779687938
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.66
- MetaLR 0.86
- MetaSVM 0.63
- CADD 22.20
- PolyPhen-2 0.67
- SIFT 0.31
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available