G28E (p.Gly28Glu) variant of VDR (Vitamin D3 receptor)
G28E (p.Gly28Glu) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- cosmic curated COSV10721
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.95
- MetaLR 0.94
- MetaSVM 1.08
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available