R110Q (p.Arg110Gln) variant of VDR (Vitamin D3 receptor)
R110Q (p.Arg110Gln) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets type II with alopecia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R110Q (p.Arg110Gln) variant details
- p.Arg110Gln
- ExAC rs756858031
- TOPMed rs756858031
- gnomAD rs756858031
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.66
- MetaLR 0.84
- MetaSVM 0.62
- CADD 25.30
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available