E113D (p.Glu113Asp) variant of VDR (Vitamin D3 receptor)
E113D (p.Glu113Asp) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E113D (p.Glu113Asp) variant details
- p.Glu113Asp
- cosmic curated COSV99968
- ExAC rs746718889
- gnomAD rs746718889
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.50
- MetaLR 0.83
- MetaSVM 0.66
- CADD 24.20
- PolyPhen-2 0.36
- SIFT 0.02
- Population evidence available
- Structural context available