G14E (p.Gly14Glu) variant of VDR (Vitamin D3 receptor)
G14E (p.Gly14Glu) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- ESP rs145438594
- TOPMed rs145438594
- gnomAD rs145438594
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.20
- MetaLR 0.58
- MetaSVM -0.15
- CADD 15.70
- SIFT 0.95
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available