D12G (p.Asp12Gly) variant of VDR (Vitamin D3 receptor)
D12G (p.Asp12Gly) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- TOPMed rs1016178956
- gnomAD rs1016178956
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.22
- MetaLR 0.60
- MetaSVM -0.06
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available