G64E (p.Gly64Glu) variant of VDR (Vitamin D3 receptor)
G64E (p.Gly64Glu) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
G64E (p.Gly64Glu) variant details
- p.Gly64Glu
- rs1388388273
- ClinGen CA384511596
- ClinVar RCV002690944
- TOPMed rs1388388273
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.56
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 0.54
- SIFT 0.01
- EVE 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available