R30Q (p.Arg30Gln) variant of VDR (Vitamin D3 receptor)
R30Q (p.Arg30Gln) 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.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs373875011
- ClinGen CA6534082
- cosmic curated COSV57469
- ClinVar RCV001052234
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.60
- MetaLR 0.84
- MetaSVM 0.79
- CADD 22.70
- PolyPhen-2 0.40
- SIFT 0.19
- 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 Middle Eastern population (allele frequency 0.00017)
- Structural context available