G33A (p.Gly33Ala) variant of VDR (Vitamin D3 receptor)
G33A (p.Gly33Ala) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- ExAC rs121909790
- gnomAD rs121909790
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.98
- MetaLR 0.97
- MetaSVM 1.08
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.49
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available