K70E (p.Lys70Glu) variant of VDR (Vitamin D3 receptor)
K70E (p.Lys70Glu) 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.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- ExAC rs755797029
- gnomAD rs755797029
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.86
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.20
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available