D118N (p.Asp118Asn) variant of VDR (Vitamin D3 receptor)
D118N (p.Asp118Asn) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D118N (p.Asp118Asn) variant details
- p.Asp118Asn
- TOPMed rs1489187403
- gnomAD rs1489187403
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.41
- MetaLR 0.68
- MetaSVM 0.23
- CADD 23.10
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available