N37D (p.Asn37Asp) variant of VDR (Vitamin D3 receptor)
N37D (p.Asn37Asp) 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.
N37D (p.Asn37Asp) variant details
- p.Asn37Asp
- TOPMed rs1410412556
- gnomAD rs1410412556
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.81
- MetaLR 0.88
- MetaSVM 0.91
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available