I87F (p.Ile87Phe) variant of VDR (Vitamin D3 receptor)
I87F (p.Ile87Phe) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
I87F (p.Ile87Phe) variant details
- p.Ile87Phe
- ExAC rs387907555
- TOPMed rs387907555
- gnomAD rs387907555
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.86
- MetaLR 0.94
- MetaSVM 1.06
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available