G46A (p.Gly46Ala) variant of VDR (Vitamin D3 receptor)
G46A (p.Gly46Ala) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G46A (p.Gly46Ala) variant details
- p.Gly46Ala
- rs121909797
- ClinGen CA6534069
- ClinVar RCV002715174
- ExAC rs121909797
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.87
- MetaLR 0.90
- MetaSVM 1.06
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available