R110W (p.Arg110Trp) variant of VDR (Vitamin D3 receptor)
R110W (p.Arg110Trp) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R110W (p.Arg110Trp) variant details
- p.Arg110Trp
- ESP rs368284580
- ExAC rs368284580
- TOPMed rs368284580
- gnomAD rs368284580
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.66
- MetaLR 0.87
- MetaSVM 0.80
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available