G46V (p.Gly46Val) variant of VDR (Vitamin D3 receptor)
G46V (p.Gly46Val) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VDDR2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- ExAC rs121909797
- TOPMed rs121909797
- gnomAD rs121909797
- Pathogenic
- in VDDR2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.04
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available