R67L (p.Arg67Leu) variant of VDR (Vitamin D3 receptor)
R67L (p.Arg67Leu) 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 0.54 / 1. The record also includes population frequency data and structural context.
R67L (p.Arg67Leu) variant details
- p.Arg67Leu
- ExAC rs753383761
- gnomAD rs753383761
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.55
- MetaLR 0.70
- MetaSVM 0.24
- CADD 20.70
- PolyPhen-2 0.18
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available