D29E (p.Asp29Glu) variant of VDR (Vitamin D3 receptor)
D29E (p.Asp29Glu) 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.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- gnomAD rs1433706740
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.91
- MetaLR 0.94
- MetaSVM 1.05
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available