G14R (p.Gly14Arg) variant of VDR (Vitamin D3 receptor)
G14R (p.Gly14Arg) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- TOPMed rs1427534934
- gnomAD rs1427534934
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.30
- MetaLR 0.71
- MetaSVM 0.32
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available