R74C (p.Arg74Cys) variant of VDR (Vitamin D3 receptor)
R74C (p.Arg74Cys) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R74C (p.Arg74Cys) variant details
- p.Arg74Cys
- ExAC rs762938778
- TOPMed rs762938778
- gnomAD rs762938778
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.82
- MetaLR 0.93
- MetaSVM 1.07
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available