R104Q (p.Arg104Gln) variant of VDR (Vitamin D3 receptor)
R104Q (p.Arg104Gln) 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 Inborn genetic diseases; not provided; Vitamin D-dependent rickets type II with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R104Q (p.Arg104Gln) variant details
- p.Arg104Gln
- rs749763626
- ClinGen CA6533968
- ClinVar RCV001109683
- ClinVar RCV002558098
- Uncertain significance
- Inborn genetic diseases; not provided; Vitamin D-dependent rickets type II with
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.65
- MetaLR 0.92
- MetaSVM 1.04
- CADD 26.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Vitamin D-dependent ricke)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available