K70R (p.Lys70Arg) variant of VDR (Vitamin D3 receptor)
K70R (p.Lys70Arg) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
K70R (p.Lys70Arg) variant details
- p.Lys70Arg
- ExAC rs750091722
- TOPMed rs750091722
- gnomAD rs750091722
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.70
- MetaLR 0.92
- MetaSVM 0.95
- CADD 25.20
- PolyPhen-2 0.63
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available