K109Q (p.Lys109Gln) variant of VDR (Vitamin D3 receptor)
K109Q (p.Lys109Gln) in VDR (Vitamin D3 receptor) is a missense change. 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.
K109Q (p.Lys109Gln) variant details
- p.Lys109Gln
- ExAC rs745379948
- gnomAD rs745379948
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.39
- MetaLR 0.86
- MetaSVM 0.81
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available