K70Q (p.Lys70Gln) variant of VDR (Vitamin D3 receptor)
K70Q (p.Lys70Gln) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
K70Q (p.Lys70Gln) variant details
- p.Lys70Gln
- ExAC rs755797029
- gnomAD rs755797029
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.77
- MetaLR 0.95
- MetaSVM 1.08
- CADD 25.20
- PolyPhen-2 0.82
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available