G64R (p.Gly64Arg) variant of VDR (Vitamin D3 receptor)
G64R (p.Gly64Arg) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G64R (p.Gly64Arg) variant details
- p.Gly64Arg
- cosmic curated COSV57469
- TOPMed rs1359262907
- gnomAD rs1359262907
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.71
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.19
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available