R67S (p.Arg67Ser) variant of VDR (Vitamin D3 receptor)
R67S (p.Arg67Ser) 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 0.53 / 1. The record also includes population frequency data and structural context.
R67S (p.Arg67Ser) variant details
- p.Arg67Ser
- ESP rs369248365
- ExAC rs369248365
- TOPMed rs369248365
- gnomAD rs369248365
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.46
- MetaLR 0.69
- MetaSVM 0.16
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available