R22Q (p.Arg22Gln) variant of VDR (Vitamin D3 receptor)
R22Q (p.Arg22Gln) 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 0.71 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs201676749
- ClinGen CA6534086
- cosmic curated COSV10721
- ClinVar RCV001109686
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.61
- MetaLR 0.87
- MetaSVM 0.88
- CADD 24.10
- PolyPhen-2 0.52
- SIFT 0.20
- 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 REMAINING population (allele frequency 0.00013)
- Structural context available